Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve.
Enzymes that hydrolyze GTP to GDP. EC 3.6.1.-.
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.
Neurons of the innermost layer of the retina, the internal plexiform layer. They are of variable sizes and shapes, and their axons project via the OPTIC NERVE to the brain. A small subset of these cells act as photoreceptors with projections to the SUPRACHIASMATIC NUCLEUS, the center for regulating CIRCADIAN RHYTHM.
Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).
Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Filarial infection of the eyes transmitted from person to person by bites of Onchocerca volvulus-infected black flies. The microfilariae of Onchocerca are thus deposited beneath the skin. They migrate through various tissues including the eye. Those persons infected have impaired vision and up to 20% are blind. The incidence of eye lesions has been reported to be as high as 30% in Central America and parts of Africa.
Diseases affecting the eye.
The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.
In invertebrate zoology, a lateral lobe of the FOREBRAIN in certain ARTHROPODS. In vertebrate zoology, either of the corpora bigemina of non-mammalian VERTEBRATES. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1329)
Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
The continuous visual field seen by a subject through space and time.
Genes that influence the PHENOTYPE only in the homozygous state.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst.
The continuous remodeling of MITOCHONDRIA shape by fission and fusion in response to physiological conditions.
A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA.
A characteristic symptom complex.
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Recording of electric potentials in the retina after stimulation by light.
A specialized field of physics and engineering involved in studying the behavior and properties of light and the technology of analyzing, generating, transmitting, and manipulating ELECTROMAGNETIC RADIATION in the visible, infrared, and ultraviolet range.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
The total area or space visible in a person's peripheral vision with the eye looking straightforward.
Slender processes of NEURONS, including the AXONS and their glial envelopes (MYELIN SHEATH). Nerve fibers conduct nerve impulses to and from the CENTRAL NERVOUS SYSTEM.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Glial cell derived tumors arising from the optic nerve, usually presenting in childhood.
The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)
The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Biochemical identification of mutational changes in a nucleotide sequence.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
The magnitude of INBREEDING in humans.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
A flavoprotein and iron sulfur-containing oxidoreductase that catalyzes the oxidation of NADH to NAD. In eukaryotes the enzyme can be found as a component of mitochondrial electron transport complex I. Under experimental conditions the enzyme can use CYTOCHROME C GROUP as the reducing cofactor. The enzyme was formerly listed as EC 1.6.2.1.
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Method of measuring and mapping the scope of vision, from central to peripheral of each eye.
Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
A general term for the complete loss of the ability to hear from both ears.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition? (1/192)

A mother and daughter are reported with bilateral optic atrophy with onset in infancy and unilateral facial palsy. This appears to be a novel autosomal dominant disorder.  (+info)

Vitreopapillary traction in proliferative diabetic vitreoretinopathy [ssee comments]. (2/192)

AIM: To present the clinical profile of a new entity in advanced proliferative diabetic vitreoretinopathy (PDVR). Mechanisms of vision loss due to vitreopapillary traction on the nasal optic disc are described, followed by an introduction of methods for prevention and treatment in such cases. METHODS: 17 patients with PDVR and traction on the nasal side of the optic disc, pallor of the optic nerve head, and reduced visual acuity were included in the study. Six patients were observed retrospectively and 11 patients prospectively before and after pars plana vitrectomy. Pre- and postoperative examinations included visual acuity, Goldmann's visual field, fluorescein angiography, and measurements of visual evoked potentials (VEP). RESULTS: During a postoperative follow up period of 3 to 24.5 months (mean 14.5 months) an improvement in optic disc appearance combined with an increased visual acuity (mean increase in VA = 0.171) was observed in 15/17 (88.3%) patients. In addition, 8/17 (47%) of these patients showed higher VEP amplitudes (mean 3.83 microV), and eight (6/8 of the same patients as VEP amplitudes) patients showed a reduction of latency (mean reduction 22.25 ms) during VEP assessment. CONCLUSION: These results suggest that vitreopapillary traction may damage the anterior optic nerve, via decreased axoplasmatic flow in the optic nerve fibres and/or mechanical reduction of perfusion in the posterior ciliary arteries. The effects of each mechanism appear to be reversible, but in the long term might lead to irreversible optic nerve atrophy. Therefore, in patients with vitreopapillary traction, early vitrectomy should be considered as a method to prevent optic neuropathy.  (+info)

Follow up of focal narrowing of retinal arterioles in glaucoma. (3/192)

AIM: To evaluate whether focal narrowing of retinal arterioles increases with progressive glaucomatous optic neuropathy. METHODS: Focal narrowing of retinal arterioles and area of neuroretinal rim were morphometrically evaluated on colour stereo optic disc photographs of 59 patients with primary open angle glaucoma, 22 patients with normal pressure glaucoma, 11 patients with secondary open angle glaucoma, and 31 patients with ocular hypertension. Minimum follow up was 8 months. Focal arteriolar narrowing was quantified by calculating the ratio of the vessel width in the broadest to the narrowest vessel part. RESULTS: In the subgroup of patients with progressive glaucomatous optic nerve damage (n = 37), focal narrowing of retinal arterioles increased significantly (p < 0.005) with decreasing neuroretinal rim area. In the subgroup of patients with stable appearance of the optic disc (n = 86), focal narrowing of retinal arterioles did not change significantly (p = 0.79). The positive correlation between increasing focal thinning of retinal arterioles and progression of glaucomatous optic neuropathy was present, although not statistically significant, in all the glaucoma subtypes examined. The location of focal thinning of retinal arterioles did not change in the follow up. CONCLUSIONS: Focal narrowing of retinal arterioles increases significantly with progressive glaucomatous optic neuropathy, independent of the type of glaucoma. It is stable in patients with non-progressive glaucoma. The findings agree with previous reports on a higher degree of focal arteriole narrowing in eyes with pronounced optic nerve damage in comparison with those with moderate optic nerve atrophy or normal eyes. In the clinical management of patients with glaucoma, in some eyes, increasing focal arteriole narrowing may suggest progression of disease.  (+info)

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? (4/192)

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.  (+info)

Persistence of tropical ataxic neuropathy in a Nigerian community. (5/192)

OBJECTIVES: The term tropical ataxic neuropathy (TAN) is currently used to describe several neurological syndromes attributed to toxiconutritional causes. However, TAN was initially proposed to describe a specific neurological syndrome seen predominantly among the Ijebu speaking Yorubas in south western Nigeria. In this study, the prevalence of TAN was determined in Ososa, a semiurban community in south western Nigeria described as endemic for TAN in 1969, and its neurological features were compared with Strachan's syndrome, prisoners of war neuropathy, the epidemic neuropathy in Cuba, and konzo. METHODS: A census of Ososa was followed by door to door screening of all subjects aged 10 years and above with a newly designed screening instrument. Subjects who screened positive had a neurological examination, and the diagnosis of TAN was made if any two or more of bilateral optic atrophy, bilateral neurosensory deafness, sensory gait ataxia, or distal symmetric sensory polyneuropathy were present. RESULTS: A total of 4583 inhabitants were registered in the census. Of these, 3428 subjects aged 10 years and above were screened. The diagnosis of TAN was made in 206 of 323 subjects who screened positive for TAN. The prevalence of TAN was 6. 0%, 3.9% in males and 7.7% in females. The highest age specific prevalence was 24% in the 60-69 years age group in women. CONCLUSION: The occurrence of TAN in Ososa continues at a higher prevalence than was reported 30 years ago. Its neurological features and natural history do not resemble those described for Strachan syndrome, epidemic neuropathy in Cuba, or konzo. The increasing consumption of cassava foods linked to its causation makes TAN of public health importance in Nigeria, the most populous African country.  (+info)

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. (6/192)

We report the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. Previously reported mutations in the DDP gene have all been frameshifts/nonsense mutations or deletion of the entire gene as part of a larger deletion encompassing the BTK gene. The clinical presentation was uniformly characterised by sensorineural hearing loss, dystonia, mental deterioration, paranoid psychotic features, and optic atrophy, indicating progressive neurodegeneration. Our report illustrates that de novo mutations occur and that a missense mutation, C66W, may cause an equally severe clinical picture. The diagnosis of sensorineural hearing impairment associated with neurologic and visual disability in a male, therefore, should encourage the search for mutations in the DDP gene, even in sporadic cases. The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.  (+info)

Prolapsing gyrus rectus as a cause of progressive optic neuropathy. (7/192)

The pathogenesis of optic neuropathy caused by neurovascular compression or by similar mechanisms is unclear. Thin-slice magnetic resonance (MR) imaging was performed in 69 patients with optic neuropathy without demonstrable ophthalmological lesions (57.0 +/- 17.1 years of age) and 102 normal subjects (57.7 +/- 13.9 years of age). The MR imaging features were classified into "no compression" by the internal carotid artery (ICA), "compression" by the ICA, "no contact" with the anterior cerebral artery (ACA) or the gyrus rectus, "contact" with either or both, "compression" by the ACA, and "compression" by the gyrus rectus. The Spearman correlation coefficients were calculated between patients or controls, the MR classification, and the age, and the number of patients in each MR classification were evaluated by the chi 2 test. Five of the 69 patients with rapidly progressive symptoms were operated on via the frontotemporal approach. The MR imaging feature of "compression" by the gyrus rectus was the best predictor of optic neuropathy (Spearman correlation coefficients rho = -0.23646, p < 0.0018). This MR imaging feature was observed in 38 of 69 patients and in 32 of 102 controls (p = 0.002). Compression of the nerve by the gyrus rectus or the ACA was confirmed in all five operated cases. Decompression of the nerve was fully achieved in four of the five patients, and their symptoms have not progressed since then. Optic neuropathies due to compression by the prolapsing gyrus rectus are not well understood. Such neuropathies may be detected by MR imaging.  (+info)

Influence of experimental chronic high-pressure glaucoma on age-related macular degeneration in rhesus monkeys. (8/192)

PURPOSE: To assess prospectively whether development of age-related macular degeneration is influenced by experimentally induced chronic high-pressure glaucoma, and whether age-related macular degeneration influences the appearance of the optic nerve head in experimental chronic high-pressure glaucoma in older rhesus monkeys. METHODS: The longitudinal study included 102 eyes of 52 rhesus monkeys. The total study group was divided into a group with experimentally induced unilateral chronic high-pressure glaucoma (n = 40 eyes) and a normal control group (n = 62 eyes). Additionally, arterial hypertension and atherosclerosis were experimentally induced in both study groups in a similar percentage of monkeys. Mean monkey age at the end of the study was 19.6 +/- 3.1 years (range, 13-24 years). The macular region, optic disc, and retinal nerve fiber layer were morphometrically evaluated by color wide-angle fundus photographs taken at baseline and at the end of the study. RESULTS: The degree of age-related macular degeneration, measured as number and area of drusen in the foveal and extrafoveal region of the macula, did not differ significantly between the two study groups. In the glaucomatous group, the degree of macular degeneration was statistically independent of the development of parapapillary atrophy, loss of neuroretinal rim, and decrease in the visibility of the retinal nerve fiber layer. CONCLUSIONS: Development of age-related macular degeneration in rhesus monkeys is independent of concomitant chronic high-pressure glaucoma, including the development of glaucomatous parapapillary chorioretinal atrophy. Conversely, age-related macular degeneration does not markedly influence the course of experimental chronic high-pressure glaucoma or the development of parapapillary atrophy in monkeys.  (+info)

Description of disease Optic nerve atrophy. Treatment Optic nerve atrophy. Symptoms and causes Optic nerve atrophy Prophylaxis Optic nerve atrophy
What is the optic nerve?. The optic nerve is in the center of the retina and is a circular to oval pinkish area measuring 1.5 to 2 mm in diameter. From the center of the nerve radiate the major blood vessels of the retina. The optic nerve itself carries over one million nerves that connect the retina ((the layer of the eye that carries the vision cells) with the occipital lobe (the part of the brain that interprets vision) like a cable wire.. What is optic nerve atrophy?. Optic nerve atrophy (ONA) is mild to severe damage to the optic nerve that can adversely affect central vision, peripheral vision and color vision. ONA that occurs as a child may result in nystagmus (rhythmic involuntary eye movements).. What causes optic nerve atrophy?. ONA causes include: tumor, trauma, decreased blood supply (ischemia) or oxygen supply (hypoxia) causing swelling, heredity, hydrocephalus, toxins, infection, and rare degenerative disorders. Onset can be from birth through adulthood.. How is optic nerve atrophy ...
Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by congenital cataracts, microphthalmia, postnatal microcephaly, and developmental delay. The neurodevelopmental and ophthalmological phenotype is more severe in Warburg Micro syndrome in which cerebral malformations and severe motor and mental retardation are common. While biallelic loss-of-function mutations in RAB3GAP1 are present in the majority of patients with Warburg Micro syndrome; a hypomorphic homozygous splicing mutation of RAB3GAP2 has been reported in a single family with Martsolf syndrome. Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital cataracts, microphthalmia, absent visually evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay. No ...
StemCellCareIndia providing best Optic Nerve Atrophy Stem Cell Treatment, optic nerve damage, optic nerve transplant, optic nerve regeneration and optic nerve atrophy stem cell treatment in Delhi, India
People can now undergo optic nerve atrophy stem cell treatment in Delhi, India at GSCC. It is the best stem cell center for optic nerve atrophy globally.
TY - JOUR. T1 - Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. AU - Handley, Mark T.. AU - Carpanini, Sarah. AU - Mali, Girish. AU - Sidjanin, Duska J.. AU - Aligianis, Irene A.. AU - Jackson, Ian J.. AU - Fitzpatrick, David R.. N1 - MRC. PY - 2015/6/1. Y1 - 2015/6/1. N2 - RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary RAB3GAP complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro. Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is absent from the endoplasmic reticulum (ER), RAB18 becomes more stably ER-associated and less cytosolic than in control cells. These data suggest that RAB18 is a physiological substrate of TBC1D20 and contribute ...
Optic nerve atrophy (ONA) is characterized by mild to severe damage to the optic nerve that can adversely affect central vision, peripheral vision and colour vision. Optic nerve disease is complicated and there are a number of pathophysiologic mechanisms that can lead to retinal ganglion cell impairment or death. ONA is associated with myriad causes including tumour, trauma, glaucoma, ischemia, heredity, hydrocephalus, toxins, infection and some rare degenerative disorders. Clinically, the neuroprotective or exogenic therapies that restore lost visual system connectivity in retinal degenerative disease are non-existent and translatable techniques for the replacement of lost retinal ganglion cells (RGCs) and photoreceptors are in their infancy [1]. Stem cell therapies are being explored extensively as treatments for degenerative eye disease, either for replacing lost neurons or for restoring neural circuits. Recent evidence suggests stem cell-derived trophic factors protect compromised endogenous ...
Kamil was diagnosed with Optic Nerve Atrophy, a condition that affects the optic nerve, which carries impulses from the eye to the brain.
To determine alterations of the photopic negative response (PhNR) in the full-field and focal macular electroretinograms (ERGs) of patients with optic nerve atrophy (ONA). Ten eyes of eight patients,
A collaborative team of researchers led by researchers at the Medical College of Wisconsin and the University of Edinburgh has identified a gene responsible for Warburg Micro syndrome, a rare genetic disease characterized ...
Purpose : To evaluate the association between RNFL-VD measurement and PPA area and the impact of PPA on RNFL-VD measurement in glaucoma evaluation. Methods : 157 eyes from 50 healthy individuals and 107 primary open angle glaucoma patients had parapapillary RNFL-VD and circumpapillary RNFL thickness (cpRNFLT) measured with a swept-source OCT (Triton OCT, Japan) and visual field measured with standard automated perimetry. Glaucoma was defined as having a narrowed rim/thinned RNFL with corresponding visual field defects. The PPA area was measured from the OCT enface images with reference to the optic disc photographs (Fig.1). Eyes with spherical equivalent of ,-6 diopters were excluded. The associations among RNFL-VD, cpRNFLT, visual field and other ocular parameters were analyzed with linear regression modeling. Area under the receiver operating characteristic curves (AUC) of RNFL-VD and cpRNFLT for detection of glaucoma was compared between the groups with and without PPA. Results : 13 (26.0%) ...
DefinitionOptic nerve atrophy is damage to the optic nerve. The optic nerve carries images of what the eye sees to the brain.Alternative NamesOptic atrophy; Optic neuropathy
Purpose : Additional diagnostic testing is indicated when a comprehensive patient history and exam fails to determine the etiology of optic atrophy. Currently, a review of literature reveals limited evidence describing the appropriate diagnostic algorithm and its yield in the workup of optic atrophy except for one study conducted in a primarily Caucasian population. We performed a retrospective chart review to report the etiologies of optic atrophy in an inner city, primarily a Hispanic and African American community, and to describe the utility of diagnostic testing in the evaluation of isolated optic atrophy. This is, to our knowledge, the first study conducted in a tertiary care center focusing on patients of African American and Hispanic descent. Methods : A retrospective chart review of all patients with a diagnosis of optic atrophy seen in the neuro-ophthalmology clinic at Bronx Lebanon Hospital Center between January 2011 and November 2016. All patients were assessed for an etiologic ...
Optic atrophy refers to the death of the retinal ganglion cell axons that comprise the optic nerve with the resulting picture of a pale optic nerve on fundoscopy. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Since the optic nerve transmits retinal information to the brain, optic atrophy is associated with vision loss. Optic atrophy is somewhat of a misnomer as atrophy implies disuse, and thus optic nerve damage is better termed optic neuropathy.
There is no treatment to reverse atrophy of the optic nerve; however, limiting further optic nerve damage (if possible) is the goal. For example, reduction of increased fluid pressure around the brain and spinal cord (hydrocephalus) may prevent further optic nerve damage. Spectacles may be prescribed to correct refractive error. When optic atrophy is unilateral protection of the good eye is essential and wearing of protective lenses should be stressed. Magnifiers or tinted lenses may also improve visual function.. ...
Definition of optic atrophies, hereditary in the Definitions.net dictionary. Meaning of optic atrophies, hereditary. What does optic atrophies, hereditary mean? Information and translations of optic atrophies, hereditary in the most comprehensive dictionary definitions resource on the web.
The problem of the origin and progression of optic atrophy (ONA), despite numerous attempts to solve the scientific community remains socially relevan
Lets face it. Life is hard. It is full of uncertainty, difficulty, discomfort, adversity, and sorrows. Sometimes daily events are too much to handle. People get tired, focus on failures, consume themselves with negativity, and are too anxious to function properly. Some internalize their struggles, pretend that they do not …. Read More » ...
The work of Professor Francis Barr and colleagues, in collaboration with Drs Irene Aligianis and Mark Handley in Edinburgh, is published in the Journal of Cell Biology (1).. It provides insight into how defects in the construction of the endoplasmic reticulum, the convoluted membrane structure in all eukaryotic cells, may underlie a spectrum of human neurological disorders.. Warburg Micro syndrome (WMS) is a disorder in which children suffer from multiple specific developmental abnormalities in brain and eye development, profound global developmental delay and neurodegeneration. The genetic defect has been mapped to multiple genes - Rab18, a regulator of membrane traffic, and both subunits of a Rab regulatory complex known as Rab3GAP.. Because of the profound neurological defects in Warburg Micro syndrome, researchers have focused on a possible role for these genes in neurotransmission. But a link has remained elusive despite a number of studies.. A look at the conservation of Rab18 provides a ...
List of disease causes of Nutritional causes of optic atrophy, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Nutritional causes of optic atrophy.
The patient is a 12-year,old boy with a history of learning disability, growth retardation, and strabismus. Weight, height and head circumference were below the 3rd percentile. A cafe-au-lait spot, 1x1 cm a diameter, on the back region and pectus excavatum deformity were diagnosed. He had facial asymmetry a broad nose, sparse eyebrows and eyelashes, a rudimentary frontal sinus, deviation of the nasal septum, and bilateral small maxillary bones. The left orbital fossa was also mildly rudimentary. On eye examination the movements of the left globe to the upward and lateral side were limited and internal strabismus was noted at this side. Visual acuity was 1/10, bilaterally. Bilateral choroid coloboma, glaucoma, vertical and horizontal nystagmus were diagnosed. Fundoscopic examination revealed bilateral optic atrophy and macular and paramacular granulation tissues on the left side. Intelligence quotient was 46. Electroencephalography revealed bilateral frontal slow-wave activity. Visual evoked ...
|p|Glaucoma is a kind of eye disorders with excavation of optic disc, optic nerve atrophy and visual field defect caused by pathological ocular hypertension. Until to now, western medicine has difficulty to deal with the treatment of glaucoma, but acupuncture treatment is...
Glaucoma is a kind of eye disorders with excavation of optic disc, optic nerve atrophy and visual field defect caused by pathological ocular hypertension. Until to now, western medicine has difficulty to deal with the treatment of glaucoma, but acupuncture treatment is almost no side...
Glaucoma is a kind of eye disorders with excavation of optic disc, optic nerve atrophy and visual field defect caused by pathological ocular hypertension. Until to now, western medicine has difficulty to deal with the treatment of glaucoma, but acupuncture treatment is almost no side...
BD is a chronic disease characterized by recurrent attacks of severe inflammation that may cause significant ocular damage leading to irreversible alterations and significant vision loss.. Main causes of serious vision loss in Behçets uveitis include optic nerve atrophy, macular damage, and retinal vascular occlusions causing ischemic retinopathy with neovascularization, vitreous hemorrhage, or neovascular glaucoma [1, 2, 5, 6].. Macular involvement in Behçets uveitis may include macular edema, active focus of retinitis, SRD, severe macular atrophy, macular ischemia, macular hole, epiretinal membrane, vascular occlusion, and subretinal neovascularization [1, 2, 5-12].. In our series, macular involvement was detected in 24 % of eyes at presentation, and occurred in 18 % of eyes during follow-up. Macular edema is by far the most common complication, reported in 11.3 to 62 % of patients with Behçets uveitis [1, 2, 5, 7-10]. It can be the result of inflammatory process or the consequence of ...
Today I received a specimen labelled left eye. It was the eyeball of a 57-year-old gentleman who had sustained trauma to that eye several months ago. The eye was blind and painful, so enucleation was performed. Grossly, there wasnt much to report other than opacity in about half of the cornea. Microscopically, I saw acute and chronic inflammation in the cornea, iris and ciliary body. There also appeared to be mild optic nerve atrophy. The changes were far too acute to allow time for the development of a cyclitic membrane ...
After-effects of inflammatory diseases of the central nervous system; optic nerve atrophy; conductive and neurosensorial hearing loss; atopic dermatitis; cryptorchidsm; severe mental delay. Preston will be institutionalized and remain bedridden for life…he needs a family! He has been waiting far too long!. Preston may be adoptable with Kyle and Eric.. *** I am eligible for an Older Child Grant! Grant funding is dependent on a completed application and available funds ...
June 5, 2014 - Pfizer and Wyeth have been hit with a lawsuit (PDF) from a couple in North Carolina who claim that Effexor caused their son to be born with a number of serious birth defects, including Complex Total Anomalous Venous Return, Ventricular Septal Defect (VSD), Atrial Septal Defect (ASD), Optic Nerve Atrophy, and more. Click here to read more.. March 7, 2014 - Certain bottles of the antidepressant Effexor (venlafaxine) have been recalled because they may contain capsules of Tikosyn (defetilide), a drug used to treat atrial fibrillation (abnormal heart rhythm). Patients who accidentally take Effexor and Tikosyn could suffer a life-threatening or fatal cardiovascular event. Click here to read more.. October 17, 2013 - There are 46 Effexor lawsuits pending in a Multi-District Litigation (MDL) in Pennsylvania, according to an update from the panel of federal judges who oversee the MDL process.. August 8, 2013 - At least 9 Effexor birth defect lawsuits in 5 U.S. District Courts have been ...
James was diagnosed with a low-vision condition called optic nerve atrophy at the age of 3. Watch the heart-warming story on how IrisVision impacted James l...
84-year-old man has had retinal detachment repairs in both eyes. He also has advanced optic atrophy. He also has had diabetes for thirty five years. He had his manifest almost no diabetic retinopathy. His vision is stable and possibly a little worse in both eyes. He is using Travatan and Dorzolamide drops. VISUAL ACUITY: OD 20/30, OS 20/40. IOP: OD 17, OS 14. The posterior chamber intraocular lens is in good position in both eyes. The left eye has a 2+ posterior capsular opacity. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.8. There is laser superiorly. The retina is attached. OS: Vertical C/D ratio is 0.95. The nerve is pale. The retina is attached on a moderate buckle. OCT SCAN: The nerve fiber layer scan in the right eye shows an average thickness of 48 microns and the left eye has 45 microns. This is substantially worse than his nerve fiber layer scans were about a year ago when the right eye was running about 71 and the left eye 60. His nerve fiber layer scans unfortunately had been ...
If you or a loved one suffers from Optic Atrophy, it may cause vision loss. Let us help maximize your remaining vision for a high quality of life.
Question - Suffering from optic atrophy poor vision in eye. Looking for effective treatment. Ask a Doctor about diagnosis, treatment and medication for Muscle atrophy, Ask an Ophthalmologist
Brief Answer: Trauma is a rare cause for congenital opticatrophy Detailed Answer: Hello Welcome to Health care Magic. I am Dr. DADAPEER K, an ophthalmologist and I answer health problems related to eye. It seems from the history that your 6 year old is having nystagmus, optic atrophy and...
This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants ...
Is stem cell therapy in optic atrophy a standard clinical practice? If not, has there been any animal and clincial experiment or research in medical field? I found there are quite a few testmonial case...
Optic atrophy treatment in India at Sanjeevan includes holistic care of the eye through natural food supplements, eye exercises and alleviation of stress.
List of 168 causes for Gait disturbances and Optic atrophy, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
List of 218 causes for Gait disorder and Loss of balance and Optic atrophy, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
Cases reported • Optic Atrophy. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
Digital color fundus imaging is a popular imaging modality for the diagnosis of retinal diseases, such as diabetic retinopathy, age-related macula degeneration and glaucoma. Early detection of glaucoma can be achieved through analyzing features in fundus images. The optic cup-to-disc ratio and peripapillary atrophy (PPA) are believed to be strongly related to glaucoma. Glaucomatous patients tend to have larger cup-to-disc ratios, and more likely to have beta type PPA. Therefore, automated methods that can accurately detect the optic disc, optic cup and PPA are highly desirable in order to design a computer aided diagnosis (CAD) system for glaucoma. In this work, a novel statistical deformable model is proposed for optic disc segmentation. A knowledge-based Circular Hough Transform is utilized to initialize the model. In addition, a novel optimal channel selection scheme is proposed to enhance the segmentation performance. This algorithm is extended to the optic cup segmentation, which is a more ...
Presentation 1: Big eyes by Dr Norman Aquino. Presentation 2: Post corneal surgery by Dr Thasarat Vajaranant. Presentation 3: Post vitrectomy by Dr Augusto Paranhos Jr.. Presentation 4: Small eyes by Dr Jimmy Lai. Presentation 5: Expulsive choroidal hemorrhage by Dr Arvind Neelkantan. Lecture Keypoints. Dr Norman Aquino spoke about the association between myopia and glaucoma. The odds for development of glaucoma increase with increase in severity of myopia. He discussed about clinical dilemma one faces especially in young myopic patients with normal IOP, average CCT and peripapillary atrophy, whether .... Keep reading ...
Optic atrophy refers to changes in the color and structure of the optic disc associated with variable degrees of visual dysfunction. Optic atrophy may be classified into hereditary, consecutive, circulatory, metabolic, demyelinating, pressure, post inflammatory and traumatic types. Degeneration of the retina and the optic nerve due to different patho-physiological processes is believed to be…. Details ...
Caglayan, Safak; Hashim, Adnan; Cieslar-Pobuda, Artur; Jensen, Vidar; Behringer, Sidney; Talug, Burcu; Chu, Dinh Toi; Pecquet, Christian; Rogne, Marie; Brech, Andreas; Brorson, Sverre Henning; Nagelhus, Erlend Arnulf; Hannibal, Luciana; Boschi, Antonella; Tasken, Kjetil & Staerk, Judith (2020). Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation. iScience. ISSN 2589-0042. 23(6) . doi: 10.1016/j.isci.2020.101154 Fulltekst i vitenarkiv. Vis sammendrag Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability, and energy output, is known to be crucial for neural development: Opa1 heterozygous mice show abnormal brain development, and inactivating mutations in OPA1 are linked to human neurological disorders. Here, we used genetically modified human embryonic and patient-derived induced pluripotent stem cells and reveal that OPA1 haploinsufficiency leads to aberrant nuclear DNA methylation ...
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional. ...
Dr. Simnad responded: See below. Disease modifying therapies lessen the frequency and extent of immune cell attacks in the |a href=/topics/central-nervous-system track_data={
We use cookies for functional and analytical purposes. Please read our Privacy and cookie statement for more information. To continue you consent to the use of cookies. More information ...
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley IM, Rosser L, Lowndes J, Fratter C, Ferguson DJP, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AKatharina, Votruba M & Poulton J (2017) Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88, 131-142 ...
OPA1 overexpression lysate, 0.1 mg. Transient overexpression lysate of optic atrophy 1 (autosomal domint) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 5
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: ADOAC; autosomal dominant optic atrophy 3; autosomal dominant optic atrophy and cataract; autosomal dominant optic atrophy type 3; OPA3; optic atrophy 3 with cataract
Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease characterised by variable optic atrophy and reduction in visual acuity. It has an insidious onset in the first decade of life and is clinically highly heterogeneous. It is associated with a centrocecal scotoma of varying size and density and an acquired blue-yellow dyschromatopsia. Recent studies of three large Danish pedigrees have mapped a gene for dominant optic atrophy (OPA1) to a 10 cM region on chromosome 3q, between markers D3S1314 and D3S1265 (3q28-qter). Genetic linkage analysis in five British pedigrees confirms mapping to chromosome 3q28-qter. Haplotype analysis of a seven generation pedigree positions the disease causing gene between loci D3S3590 and D3S1305, corresponding to a genetic distance of 2 cM. This represents a significant linkage refinement and should facilitate positional cloning of the disease gene.. ...
Many colour tests require a visual acuity of at least 0.1, making them unsuitable for low vision patients. To assess colour vision in patients with sub-normal acuity, we re-designed a previously described test so that its spatial details would be coarse enough to be resolvable by subjects with severe visual impairment. The test measures chromatic discrimination along 20 axes evenly spaced in CIE 1976 L*u*v* colour space. We detail the results for this test in a group of patients with dominant optic atrophy. Despite the lack of evidence for genetic heterogeneity in dominant optic atrophy, we observed phenotypic variation both between and within families.. ...
Autosomal dominant optic atrophy (adOA) is the most prevalent hereditary optic neuropathy with moderate to severe visual field loss and loss of retinal ganglion cells. The majority of cases of adOA...
Dear Editor: I read with interest the article by Dr. Cohn, et al regarding the natural history of autosomal dominant optic atrophy (DOA). The authors describe an average of 10-year follow up for 69 patients with genetically confirmed DOA. In their study, 6 (9%) patients enjoyed improvement in visual acuity by 2 or more lines. I found this surprising, and I wonder if the authors could provide further information regarding this group. Is it the opinion of the authors that these patients actually improved or that this may represent testing artifact or bias? Were they significantly younger than the rest of the cohort? Was their follow up significantly shorter? By how much did the acuities improve among this group? Was their baseline acuity more likely to come from outside records? Sincerely, Michael S Lee, MD ...
TY - JOUR. T1 - Autosomal dominant optic atrophy and cataract plus phenotype including axonal neuropathy. AU - Horga, Alejandro. AU - Bugiardini, Enrico. AU - Manole, Andreea. AU - Bremner, Fion. AU - Jaunmuktane, Zane. AU - Dankwa, Lois. AU - Rebelo, Adriana P.. AU - Woodward, Catherine E.. AU - Hargreaves, Iain P.. AU - Cortese, Andrea. AU - Pittman, Alan M.. AU - Brandner, Sebastian. AU - Polke, James M.. AU - Pitceathly, Robert D.S.. AU - Züchner, Stephan. AU - Hanna, Michael G.. AU - Scherer, Steven S.. AU - Houlden, Henry. AU - Reilly, Mary M.. N1 - Funding Information: The present study is not industry-sponsored. A. Horga, E. Bugiardini, and A. Manole report no disclosures. F. Bremner has received funding for travel or speaker honoraria from Allergan and has served on the Editorial Board for BMC Opthalmology, Frontiers in Neuro-opthalmology, and Tropical Medicine. Z. Jaunmuktane has served on the Editorial Board of Acta Neuropathologica. L. Dankwa, A.P. Rebelo, C.E. Woodward, and I. ...
Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by {34:Rendtorff et al., 2011}). Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness ({600965}) as well as a Wolfram syndrome-like phenotype ({614296}) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy ...
Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia an
According to the researchers themselves, this therapy based on the OPA1 gene could also be useful for humans with dominant optic atrophy and perhaps also for other diseases affecting mitochondrial dysfunction. In fact, mitochondrial dysfunction can also cause other neurological diseases and disorders and a possible cure for this type of dysfunction caused by the OPA1 gene could have a very big social impact ...
Background Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome. Here, we report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of OPA1-negative autosomal dominant optic atrophy (ADOA) patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant. Methods Mutation analysis was carried out in a patient cohort of 121 independent ADOA patients. To characterise a novel OPA3 mutation, we analysed the mitochondrial import, steady-state levels and the mitochondrial localisation of the mutated protein in patients fibroblasts. Furthermore, the morphology of mitochondria harbouring the mutated OPA3 was monitored. Results We identified four independent cases (representing families with multiple affected members) with OPA3 mutations. Besides the known p.Q105E mutation, we observed a novel insertion, ...
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic
Wolfram syndrome is a rare autosomal recessive genetic disorder with clinical signs apparent in early childhood. This condition is characterized by juvenile-onset diabetes, optic nerve atrophy, deafness, diabetes insipidus and neurodegeneration, and it may result in death in middle adulthood. Accumulating evidence in my laboratory strongly suggests that endoplasmic reticulum (ER) dysfunction is a critical pathogenic component of Wolfram syndrome. However, a complete understanding of the pathways and biomarkers involved in the disease process is still lacking. As a result, despite the underlying importance of ER dysfunction in Wolfram syndrome, there are currently no therapies that target the ER. The goal of our laboratory is to reveal the molecular mechanisms of Wolfram syndrome and develop patient-based therapeutics for this complex disorder using genetic information from each patient and patient-derived induced pluripotent stem cells (iPSCs). Growing evidence indicates that ER dysfunction is ...
Among 518 operated patients, 426 (82.2%) could be contacted and 334 (64.4% of operated patients) completed the examinations. The mean age was 74.1 ± 8.8 years and 62.9% were women. Postoperative uncorrected visual acuity was available in 372 eyes. Among them, uncorrected visual acuity was ≥6/18 in 278 eyes (74.7%) and ,6/60 in 60 eyes (16.1%), and 323 eyes (86.8%) had pinhole visual acuity ≥ 6/18 and 38 eyes (10.2%) had pinhole visual acuity , 6/60. Main causes of visual impairment were uncorrected refractive error (63.9%) and comorbid eye disease (24.5%). Comorbid eye diseases associated with pinhole visual acuity , 6/60 (n = 23, 6.2%) included glaucoma, other optic nerve atrophy, vitreous haemorrhage and retinal detachment. ...
Prof. Wei Yang invents smokeless herbal moxa stick to brighten eyes based on his clinical experience. So this kind of moxibustion is very effective for various eye diseases such as dryness of eyes, AMD, myopia, optic nerve atrophy etc. On this lecture, he will introduce the whole therapeutic...
Mitochondrial dysfunction develops in skeletal muscle with aging and may contribute to insulin resistance, which increases cardiovascular risk. A link between skeletal muscle insulin resistance and perturbed mitochondrial fusion and fission has been suggested but not proven. Optic Atrophy 1 (OPA1) is an inner mitochondrial membrane protein that plays a fundamental role in mitochondrial fusion, quality control and respiratory function. OPA1 levels are reduced in muscle from elderly subjects; however, the specific roles of OPA1 in the aging muscle have not been studied. We, therefore, generated a mouse model with inducible deletion of the OPA1 gene in skeletal muscle of adult C57Bl6 mice, by crossing OPA1 floxed mice with HSA-Cre (ERT2) mice (KO). Four-week-old KO and wild-type (WT) mice were treated with tamoxifen for 5 days to induce recombination, resulting in a 60% reduction in OPA1 protein levels 8 weeks after treatment (12-wk-old mice). OPA1 deficiency resulted in altered mitochondrial ...
The RAB3GAP2 gene is associated with autosomal recessive Warburg micro syndrome 2 (WARBM2) (MedGen UID: 481844) and Martsolf syndrome (MedGen UID: 208658). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (HSP) (PMID: 24482476).
Failure to Diagnose Motor and Sensory Neuropathy, Optic Atrophy and Sensorineural Hearing Loss including overlooked symptoms and complications for under-diagnosed medical conditions.
Get natural cures for Leber Optic Atrophy that can make a difference in your life or the life of someone you love with alternative treatments.
Semantic Scholar extracted view of Relation of hereditary optic atrophy (leber) to the other familial degenerative diseases of central nervous system. by M BEREDAY et al.
Recessive optic atrophy is characterized by severe bilateral vision loss before 5 years of age, often associated with nystagmus. Wolfram syndrome is optic atrophy caused by biallelic mutations in WFS1, with variable expressivity of hearing loss and diabetes mellitus. Similarly, Behr optic atrophy is caused by biallelic mutations in OPA1, with variable expressivity of neurologic findings such as ataxia, pyramidal signs, spasticity, bladder dysfunction, and intellectual disability.. Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.. ...
A recent survey found more than half of low vision patients are unwilling to use assistive devices, even when they improve their visual performance. Researchers in India interviewed 413 low vision patients from their tertiary eye hospital to uncover the reasons 235 of them shy away from assistive technology. They found cost and convenience werent necessary to blame. In fact, the biggest factor for patients older than age 40 was social stigma (cited by 41.3% of the patients). Those between the ages of 41 and 60 were most likely to avoid these tools due to a fear of losing their job (26.6% of patients). Of all patients younger than 60, 25% felt they didnt need them, despite the fact that the researcher found 53% of those who felt there were not candidates actually had severe visual impairment. Those older than 60 seem to have a harder time accepting their failing vision, as 16.5% were in denial about the magnitude of their condition, the researchers wrote. However, this statistic was somewhat ...
Hope. Low vision specialists offer their patients not drugs or surgery but the hope that, after exhausting all medical interventions, they will still be able to
Mitochondrial dysfunction or loss is evident in neurodegenerative diseases. Furthermore, mitochondrial DNA (mtDNA) mutations associated with NADH dehydrogenase subunits and nuclear gene mutations that affect mitochondrial function result in optic neuropathies. In this issue of the JCI, Del Dotto et al. and Piro-Mégy et al. identify heterozygous mutations in nuclear-encoded mitochondrial single-strand binding protein 1 (SSBP1) in patients with apparently dominant optic neuropathy with or without extraocular phenotypes. Both research groups reported similar mitochondrial findings in response to SSBP1 mutations. However, the specific SSBP1 mitochondria-associated function in retinal ganglion cells (RGCs) and the resulting optic nerve remains unclear. We suggest that high expression of SSBP1 during RGC differentiation is critical for mtDNA maintenance to produce appropriate optic nerve connectivity and that SSBP1 mutations in dominant optic atrophy patients do not permit stable binding to ...
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing tha …
LHON causes a painless loss of central vision in both eyes, due to the death of optic nerve cells. It leads to blindness in young adults, typically between 12 and 30 years of age. Both eyes are affected at the same time. Males are about 4 times more likely to be affected than females. Males will not pass the gene to any of their children, but females with the mutation will pass it to all of their children, regardless of whether the children are sons or daughters. Many factors affect the development of LHON. Both alcohol and tobacco use are associated with an increased risk for blindness in carriers of the mutation. ...
A rare hereditary disorder, usually affecting young males, that is characterized by loss of central vision due to neuroretinal degeneration. Visual loss in one eye is rapid and usually followed by loss in the second eye. T. Leber ...
I run because I can. When I get tired, I remember those who cant run, what they would give to have this simple gift I take for granted, and I run harder for them. This quote was on a meme that runner, Tim Boyles, shared online. A man named, Michael, who has Down Syndrome, saw the meme and replied, You can run for me anytime! And from that exchange, the idea for I Run 4 Michael came to fruition. I Run 4 Michael is a non-profit organization that matches athletes of all levels with individuals who have special needs. The athlete dedicates their workout (whether it be a jog, a marathon, a swim, a bike ride or whatever) to their buddy. Many times the athletes find great inspiration ...
For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:. ...
Thank you for your interest in spreading the word about The British Journal of Psychiatry.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.. ...
Over past three years I have been followed by specialist and symptoms have been minimal: tingling, heat insensitivity and chronic fatigue for which I take mess. During this time I was also dxd with optic atrophy from optic neuritis but again symptoms were subacute. I have had 3 Brain mris. First showed 4 nonspecific white matter changes, with second some had disappeared and with third I was told it was possible to count 8, still nonspecific but radiologist still reports as normal MRI. So now I have to have a 4th a year later. Is it worth it? I mean from point of view of expense as well as exposure to contrast- I have also had spine mris which showed nothing. Is there a real chance I could have MS or am I being followed from an excess of caution? Is another MRI the way to go or would you suggest other testing or nothing? I would really welcome your advice as I am feeling very unsure ...
MalaCards based summary : Scotoma, also known as generalized visual field contraction or constriction, is related to optic atrophy 1 and migraine, familial hemiplegic, 2. An important gene associated with Scotoma is TMEM126A (Transmembrane Protein 126A), and among its related pathways/superpathways is the visual cycle I (vertebrates). The drugs Ranibizumab and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and retina ...
From NCBI Gene:. The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5-AGGTCA-3 repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]. From UniProt: ...
Abrams, AJ ;Hufnagel, RB ;Rebelo, A ;Zanna, C ;Patel, N.;Gonzalez, MA ;Campeanu, IJ ;Griffin, LB ;Groenewald, S ;Strickland, AV ;Tao, F ;Speziani, F ;Abreu, L ;Schüle, R ;Caporali, L ;La Morgia, C ;Maresca, A ;Liguori, R ;Lodi, R ;Ahmed, ZM ;Sund, KL ;Wang, X.;Krueger, LA ;Peng, Y ;Prada, CE ;Prows, CA ;Schorry, EK ;Antonellis, A ;Zimmerman, HH ;Abdul-Rahman, OA ;Yang, Y.;Downes, SM ;Prince, J ;Fontanesi, F ;Barrientos, A ;Németh, AH ;Carelli, V ;Huang, T ;Zuchner, S ;Dallman, JE Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature genetics 47, 8 (2015): 926-32. Details. Full text ...
GW-501516 BULKING (More ideal for recomping and lean mass) See BelowRecomp GW-501515 stacks amazing well with LGD and S-4 and can provide drastic results in such a short duration, although LGD is great for bulking the addition will help keep you full while peeling down without flattening out..Cutting The BEST combos for this agent is MK-2866,s-4..This trio will keeping you dry,dense and tight during a caloric deficit..Dont fuss or stress the lose of muscle because I assure you this will perserve your muscle and hinder atrophy due to loss of carbs/cals..
Optic Atrophy. *Argyll Robertson pupil[1] *Argyll Robertson pupil constricts with accommodation but it is not reactive to light ...
Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy ... "Entrez Gene: OPA1 optic atrophy 1 (autosomal dominant)". Santarelli R, Rossi R, Scimemi P, Cama E, Valentino ML, La Morgia C, ... Dominant optic atrophy (DOA) in particular has been traced to mutations in the GTPase domain of OPA1, leading to sensorineural ... Votruba M, Moore AT, Bhattacharya SS (Jan 1998). "Demonstration of a founder effect and fine mapping of dominant optic atrophy ...
Frisén L, Malmgren K (2003). "Characterization of vigabatrin-associated optic atrophy". Acta Ophthalmologica Scandinavica. 81 ( ... optic atrophy identifies vigabatrin toxicity in children". Ophthalmology. 111 (10): 1935-42. doi:10.1016/j.ophtha.2004.03.036. ... In 2003, vigabatrin was shown by Frisén and Malmgren to cause irreversible diffuse atrophy of the retinal nerve fiber layer in ... Buncic JR, Westall CA, Panton CM, Munn JR, MacKeen LD, Logan WJ (2004). "Characteristic retinal atrophy with secondary "inverse ...
development of optic neuritis and atrophy. atrial fibrillation, cerebral infarction, acute myocardial infarction, Fisher's ...
An example of this phenomenon is Leber optic atrophy. Generally, individuals with this condition do not experience vision ...
"Glaucoma causes Optic Nerve Cupping (atrophy) and Vision Loss". The Eye Digest. The University of Illinois Eye and Ear ... The optic disc is the anatomical location of the eye's "blind spot", the area where the optic nerve and blood vessels enter the ... The cup-to-disc ratio compares the diameter of the "cup" portion of the optic disc with the total diameter of the optic disc. A ... The optic disc can be flat or it can have a certain amount of normal cupping. But glaucoma, which is in most cases associated ...
In 1959, the condition was named Kjer's optic neuropathy in his honor. Kjer, P. (1959). "Infantile optic atrophy with dominant ... "A Frameshift Mutation in Exon28 of the OPA1 Gene Explains the High Prevalence of Dominant Optic Atrophy in the Danish ... Paul Kjer, Danish ophthalmologist, studied a condition in nineteen families that was characterized by infantile optic atrophy ...
Other ocular defects including optic atrophy, microphthalmia, vitreitis, leukokoria and cataracts can also be seen. Most of the ... Other findings include chorioretinal scars, and optic atrophy. Chorioretinitis, which is followed by chorioretinal scarring, is ...
Leber's hereditary optic neuropathy Charcot-Marie-Tooth disease Hagemoser; et al. (1989). "Optic atrophy, hearing loss, and ... Optic atrophy occurs in the first year and the following symptoms show up before thirteen years. A possible autosomal recessive ... It is characterized by optic atrophy followed shortly by loss of hearing and peripheral neuropathy. Onset of the disease ... Iwashita, H.; Inoue, N.; Kuroiwa, Y. (1969). "Familial optic and acoustic nerve degeneration with distal amyotrophy". Lancet. ...
... and optic disk edema (22%). During later stages of onset, one may also find plaques, emboli, and optic atrophy. One diagnostic ... However, optic atrophy leads to permanent loss of vision. Irreversible damage to neural tissue can occur after approximately 15 ... The ophthalmic artery branches off into the central retinal artery which travels with the optic nerve until it enters the eye. ... more specifically the inner retina and the surface of the optic nerve. Variations, such as branch retinal artery occlusion, can ...
... congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found. Heart-hand ... "Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome". American Journal of Medical Genetics. 29 (2): ...
Optic atrophy may also occur, often leading to blindness. Hearing loss may also occur. Additionally, although physical signs of ... muscular atrophy, and twitching, and epilepsy. In MDDS associated with mutations in the genes associated with mutations in ...
Optic atrophy (14.1%). *Glaucoma (5.9%). *Congenital abnormalities (5.1%). *Disorders of the visual cortex (4.1%) ... Injuries and cataracts affect the eye itself, while abnormalities such as optic nerve hypoplasia affect the nerve bundle that ... Glaucoma causes visual field loss as well as severs the optic nerve.[35] Early diagnosis and treatment of glaucoma in patients ... to the occipital lobe of the brain that prevent the brain from correctly receiving or interpreting signals from the optic nerve ...
Characterised by optic atrophy, hence known also as CMT with optic atrophy. Also known as hereditary motor and sensory ... Also known as Rosenberg-Chutorian syndrome; signs include optic atrophy, polyneuropathy and deafness ... Allelic with Autosomal dominant distal spinal muscular atrophy CMT2M. 606482. DNM2. 19p13.2. Autosomal dominant. Full name: ... Allelic with spinal muscular atrophy with lower extremity predominance CMT2P. 614436. LRSAM1. 9q33.3. Autosomal dominant. ...
Optic atrophy and retinitis pigmentosa observed in some cases too. Arts syndrome is caused by a loss of function mutation in ... Ataxia and visual impairment from optic atrophy are treated in a routine manner. Routine immunizations against common childhood ... Vision loss caused by optic nerve atrophy in early childhood. Peripheral neuropathy. Recurrent infections, especially in the ...
Mutations in this gene result in neuropathy and optic atrophy. The SLC25A46 gene is located on the q arm of chromosome 5 in ... August 2015). "Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder". Nature Genetics ... Symptoms include early-onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as ...
Early symptoms include infantile spasms, hyparrhythmia, and seizures, and optic atrophy. Other features include arrest of ... PEHO syndrome (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) is an autosomal recessive and dominate ... Klein A, Schmitt B, Boltshauser E (2004). "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) ... and optic atrophy (PEHO) syndrome". Neuropediatrics. 33 (2): 100-4. doi:10.1055/s-2002-32371. PMID 12075493. ...
Motor skills and speech are lost, and optic atrophy causes blindness. A variety of neurological symptoms, such as epilepsy and ...
A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy. This mutation occurs on the second exon ... A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy. TMEM126A shows higher levels of ... There is interaction with ATP synthase and the optic atrophy protein. These interactions relate to the proteins function in the ... is mutated in autosomal-recessive nonsyndromic optic atrophy". American Journal of Human Genetics. 84 (4): 493-8. doi:10.1016/j ...
1994). "Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome". Neuropediatrics. 25 (5): 265-7. doi:10.1055/s- ...
Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in ... It is typically associated with the onset of visual deterioration (optic atrophy) in early childhood followed by the ... Costeff, H.; Gadoth, N.; Apter, N.; Prialnic, M.; Savir, H. (1989-2004). "A familial syndrome of infantile optic atrophy, ... Ryu, Seung-Wook; Jeong, Hyeon Joo; Choi, Myunghwan; Karbowski, Mariusz; Choi, Chulhee (August 2010). "Optic atrophy 3 as a ...
Optic Atrophy, and Hypogenitalism". American Journal of Diseases of Children. 147 (12): 1309-12. doi:10.1001/archpedi. ...
Mutations in OPA1 also cause optic atrophy, which suggests a common role of mitochondrial fusion in neuronal dysfunction. The ... February 2006). "Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2". Annals of Neurology. 59 (2): 276- ... and optical atrophy. All these complex phenotypes are clinically collected in the neurological disorder CMT2A, a subtype of a ...
Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in ... Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene. 3-Methylglutaconic aciduria GRCh38: Ensembl ... "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)". Bonaldo MF, Lennon G, Soares MB ( ... 2005). "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract". J. Med. Genet. 41 (9): e110. doi: ...
About the causes of optic nerve atrophy in tabes and progressive paralysis); from Royal. Psychiatr. and Nerve Clinic in Kiel ...
The next symptom to appear is often optic atrophy, the wasting of optic nerves, around the age of 11. The first signs of this ... The condition worsens over time, and people with optic atrophy are usually blind within 8 years of the first symptoms. Life ... Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal ... optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr ...
Unfortunately, optic atrophy as a result of degradation of the optic nerve (common with GAPO syndrome) cannot be corrected. ... Atrophy of the optic nerve occurs in approximately one third of individuals. This degradation leads to inhibited peripheral ... Corticosteroids have been proposed as a treatment for optic nerve atrophy, but their effectiveness is disputed, and no steroid ... Tipton, Robert; Gorlin, Robert (1984). "Growth Retardation, Alopecia, Pseudo- Anodontia, and Optic Atrophy-The GAPO Syndrome: ...
SdhA mutations can lead to Leigh syndrome, mitochondrial encephalopathy, and optic atrophy. SdhB mutations can lead to ...
Chronic eye effects such as cataracts, glaucoma, and optic atrophy can occur. Skin changes usually persist despite therapy. VKH ... Cranial nerve palsies and optic neuritis are uncommon. The acute uveitic phase occurs a few days later and typically lasts for ... optic nerve hyperemia and papillitis, and multiple exudative bullous serous retinal detachments. The convalescent phase is ...
... and optic nerve atrophy. The missense mutation affects the MPP processing site and impairs YME1L1 maturation, leading to its ... and the dynamin-like GTPase optic atrophy 1 (OPA1) Loss of YME1L1 accelerates OMA1-dependent long-form OPA1 cleavage, resulting ... "Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation". eLife. 5. doi: ...
... and subsequent optic atrophy.[20] These are the main reasons why fundoscopy should be performed during the physical examination ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ...
Males are infertile with atrophy in the testes.[14] Bone age is delayed and bones are more brittle.[citation needed] Variations ...
Optic atrophy Refractory errors Small, low-set ears that may be rotated somewhat backwards and has a prominent (bulging) pinna ...
Progressive muscular atrophy. *Progressive bulbar palsy *Fazio-Londe. *Infantile progressive bulbar palsy ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ...
Optic ataxia is usually part of Balint's syndrome, but can be seen in isolation with injuries to the superior parietal lobule, ... and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and ... Examples include optic ataxia (lack of coordination between visual inputs and hand movements, resulting in inability to reach ... Spinazzi M, Angelini C, Patrini C (May 2010). "Subacute sensory ataxia and optic neuropathy with thiamine deficiency". Nature ...
The optic disc, a part of the retina sometimes called "the blind spot" because it lacks photoreceptors, is located at the optic ... Retinal diseases in dogs include retinal dysplasia, progressive retinal atrophy, and sudden acquired retinal degeneration. ... and the nucleus of the optic tract. It passes through the other layers, creating the optic disc in primates.[19] ... The optic vesicle gives rise to three structures: the neural retina, the retinal pigmented epithelium, and the optic stalk. The ...
Optic neuritis, though, occurs preferentially in females typically between the ages of 30 and 35.[18] Other conditions such as ... Progressive muscular atrophy. *Progressive bulbar palsy *Fazio-Londe. *Infantile progressive bulbar palsy ... Rodriguez M, Siva A, Cross SA, O'Brien PC, Kurland LT (1995). "Optic neuritis: a population-based study in Olmsted County, ... The myelinoclastic disorders are typically associated with symptoms such as optic neuritis and transverse myelitis, because the ...
Glassing is the use of optics, such as binoculars, to locate animals more easily. ... https://www.nytimes.com/2014/01/21/opinion/a-trophy-hunt-thats-good-for-rhinos.html ...
... and optic atrophy. Blindness results in approximately 35 percent to 40 percent of eyes affected with keratitis and corneal ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ... Progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to ...
Olivopontocerebellar atrophy. *Opsoclonus myoclonus syndrome. *Optic neuritis. *Orthostatic hypotension. *O'Sullivan-McLeod ... Spinal muscular atrophy. *Spinal muscular atrophy with respiratory distress type 1 - see Distal spinal muscular atrophy type 1 ...
... in the presence of complete villous atrophy (more common in children under three years), 70% for subtotal atrophy, and up to 30 ... This method has now been largely replaced by fibre-optic endoscopy, which carries a higher sensitivity and a lower frequency of ... Villous atrophy and malabsorptionEdit. The inflammatory process, mediated by T cells, leads to disruption of the structure and ... Indeed, earlier studies of rotavirus damage in the gut showed this causes a villous atrophy.[86] This suggests that viral ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ...
Longstanding papilledema leads to optic atrophy, in which the disc looks pale and visual loss tends to be advanced.[5][9] ... The increased pressure leads to papilledema, which is swelling of the optic disc, the spot where the optic nerve enters the ... Optic nerve sheath fenestration is an operation that involves the making of an incision in the connective tissue lining of the ... Two main surgical procedures exist in the treatment of IIH: optic nerve sheath decompression and fenestration and shunting. ...
The central retinal artery (retinal artery) branches off the ophthalmic artery, running inferior to the optic nerve within its ... The central retinal artery is formed from the proximal part of the hyaloid artery after atrophy of its distal part has formed ... Lee, K. E.; Klein, B. E. K.; Klein, R.; Meuer, S. M. (2007). "Association of Retinal Vessel Caliber to Optic Disc and Cup ... It pierces the eyeball close to the optic nerve, sending branches over the internal surface of the retina, and these terminal ...
Optic atrophy, non-arteritic anterior ischaemic optic neuropathy I Completed Quark Pharmaceuticals NCT01064505 ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ... optic nerve or parts of the brain.[2] Diagnosis is typically with the Ishihara color test; however, a number of other testing ... Physiological Optics. 6 (4): 369-75. doi:10.1111/j.1475-1313.1986.tb01155.x. PMID 3306566.. ...
Kyphosis brachyphalangy optic atrophy. *Lacrimo-auriculo-dento-digital syndrome. *Lactate dehydrogenase deficiency type A ...
Damage to the eye: optic stalk, optic cup, and lens vesicles, microphthalmia, cataracts, chorioretinitis, optic atrophy ...
Leber's hereditary optic neuropathy (LHON) *visual loss beginning in young adulthood. *eye disorder characterized by ... Cerebellar atrophy or hypoplasia has sometimes been reported to be associated.[8] ... to examine the safety and efficacy of mitochondrial gene therapy in Leber's hereditary optic neuropathy. ... progressive loss of central vision due to degeneration of the optic nerves and retina ...
Autosomal Dominant Optic Atrophy. *ADOA Plus Syndrome. *Biotinidase deficiency. *Blepharophimosis, epicanthus inversus and ...
Progressive muscular atrophy. *Progressive bulbar palsy *Fazio-Londe. *Infantile progressive bulbar palsy ...
Optic atrophy. *Spinomuscular atrophy. *Hypertrophy. *List of biological development disorders. References[edit]. *^ W. T. ... Muscle atrophies[edit]. Main article: Muscle atrophy. Disuse atrophy of muscles and bones, with loss of mass and strength, can ... Gland atrophy[edit]. The adrenal glands atrophy during prolonged use of exogenous glucocorticoids like prednisone. Atrophy of ... Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy ...
Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ...
Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. Explore symptoms ... medlineplus.gov/genetics/condition/optic-atrophy-type-1/ Optic atrophy type 1. ... Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in cells and tissues ... Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. This condition is more common in Denmark, where it ...
... optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly ... A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of ... nerve fibers which arise in the retina and converge to form the optic disk, ...
An autosomal dominant disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic ... optic nerve, optic chiasm and optic tracts. OPA12 patients manifest slowly progressive visual impairment with onset usually in ... disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, ...
This family consists of several optic atrophy 3 (OPA3) proteins and related proteins from other eukaryotic species, the ... This disease manifests with early bilateral optic atrophy, spasticity, extrapyramidal dysfunction, ataxia, and cognitive ...
Pittman et al, Rayhamzadeh et al, and Fleisher et al, and how many have suffered from optic atrophy. ... 1 One developed optic atrophy during the course of treatment (1,500 mg/day), while the other did not. It would be interesting ... and the risk of developing optic atrophy secondary to that drug. We have reported three cases of acrodermatitis enteropathica ...
... and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and ... Bosch-Boonstra-Schaaf optic atrophy syndrome is an autosomal dominant disorder characterized by delayed development, moderate ... Bosch-Boonstra-Schaaf optic atrophy syndrome is an autosomal dominant disorder characterized by delayed development, moderate ... and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and ...
Optic Atrophy answers are found in the 5-Minute Clinical Consult powered by Unbound Medicine. Available for iPhone, iPad, ... Synonym(s): optic atrophy; optic neuropathy. Pediatric Considerations. ONA in children may be more difficult to recognize ... Synonym(s): optic atrophy; optic neuropathy. Pediatric Considerations. ONA in children may be more difficult to recognize ... Exam findings: pale-appearing (i.e., atrophic) optic nerve. *Optic nerve atrophy (ONA) is a clinical sign that is not specific ...
Find information about optic atrophy from the Cleveland Clinic, including causes, signs, symptoms, treatment, and prognosis for ... What is optic atrophy?. Optic atrophy is a condition that affects the optic nerve, which carries impulses from the eye to the ... Optic Atrophy Optic atrophy is a condition that affects the optic nerve, which carries impulses from the eye to the brain. ( ... Optic atrophy is not a disease, but rather a sign of a potentially more serious condition. Optic atrophy results from damage to ...
What is optic nerve atrophy?. Optic nerve atrophy (ONA) is mild to severe damage to the optic nerve that can adversely affect ... Optic Nerve Atrophy. En Español Read in Chinese What is the optic nerve?. The optic nerve is in the center of the retina and is ... What treatment is available for optic nerve atrophy?. There is no treatment to reverse atrophy of the optic nerve; however, ... How is optic nerve atrophy diagnosed?. Paleness (pallor) of the typically pinkish optic nerve is observed by the eye M.D. ...
... of the optic nerve head. This collection o ... Optic atrophy refers to the permanent involution of the optic ... Optic atrophy refers to the permanent involution of the optic nerve resulting in an altered appearance, or pallor, of the optic ... This collection of content reviews the hallmarks of optic atrophy and a selection of disorders associated with its development. ...
Is stem cell therapy in optic atrophy a standard clinical practice? If not, has there been any animal and clincial experiment ... stem cell therapy in optic atrophy chrhee Is stem cell therapy in optic atrophy a standard clinical practice? If not, has there ... The whole field of medicine would love to be able to do more for optic atrophy. You can Google optic atrophy and spend days ... The whole field of medicine would love to be able to do more for optic atrophy. You can Google optic atrophy and spend days ...
... autosomal dominant optic atrophy and cataract; autosomal dominant optic atrophy type 3; OPA3; optic atrophy 3 with cataract ... autosomal dominant optic atrophy and cataract; autosomal dominant optic atrophy type 3; OPA3; optic atrophy 3 with cataract Alt ... optic atrophy 3 (DOID:0111433) Alliance: disease page Synonyms: ADOAC; autosomal dominant optic atrophy 3; ... Definition: An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in ...
Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients. *Optic ... To determine the presence of and to describe any anatomical changes in the optic nerve head and retina observed following the ...
Optic Atrophy, diagnosis, etiology, Optic Chiasm, Pituitary Neoplasms, complications, Prognosis, Visual Fields ... Atrophy of optic nerve fibres in compression of the chiasm. Prognostic implications.. Journal article ... Provided that atrophy does not increase after surgery, simultaneous preoperative evaluation of retinal nerve fibre atrophy and ... In five eyes the field defect was excessive in relation to the degree of atrophy. After surgery the visual field defects ...
ICD-9 code 377.1 for Optic atrophy is a medical classification as listed by WHO under the range - DISORDERS OF THE EYE AND ... Optic atrophy (377.1). ICD-9 code 377.1 for Optic atrophy is a medical classification as listed by WHO under the range - ...
Recurrent Rheumatic Chorea and Optic Atrophy after Occlusion of Central Retinal Artery Br Med J 1961; 2 :688 ... Recurrent Rheumatic Chorea and Optic Atrophy after Occlusion of Central Retinal Artery ... Recurrent Rheumatic Chorea and Optic Atrophy after Occlusion of Central Retinal Artery ... Recurrent Rheumatic Chorea and Optic Atrophy after Occlusion of Central Retinal Artery. Br Med J 1961; 2 doi: https://doi.org/ ...
Mitochondrial Inheritance: Lebers Optic Atrophy. What is mitochondrial inheritance?. The chromosomes in the body are found in ... LHON causes a painless loss of central vision in both eyes, due to the death of optic nerve cells. It leads to blindness in ... The first human disease that was linked to a mutation in mitochondrial DNA was Lebers Hereditary Optic Neuropathy (LHON). ... What is Lebers hereditary optic neuropathy (LHON)?. ...
... Vet Ophthalmol. 2008 Sep;11 Suppl 1:20-6. doi: 10.1111/j.1463-5224.2008. ... varying from permanent total blindness with ophthalmoscopic evidence of optic atrophy to variable and transient visual ... three cases proved to be infection of the spheno-palatine sinuses with subsequent distension and compression of adjacent optic ... nerve(s) and optic chiasm. Conclusions: Specialist veterinary ophthalmological examination proved of extremely limited value. ...
Our study showing that mutations in SSBP1 cause a form of dominant optic atrophy frequently accompanied with foveopathy brings ... All affected individuals presented optic atrophy, associated with foveopathy in half of the cases. To uncover the structural ... Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. ... Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. ...
... have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight ... OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes Brain. 2008 Feb;131(Pt 2):338-51. doi: ... have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight ...
Optic Nerve Atrophy (ONA) is a permanent visual impairment caused by damage to the optic nerve. The optic nerve functions like ... Optic atrophy which occurs in both eyes from time of birth (bilateral and congenital) may cause rhythmic, involuntary eye ... 1986). Eye Facts about Optic Atrophy, American Academy of Ophthalmology.. Hoyt, C., Good, W. (1 992). Do We Really Understand ... The Difference Between Optic Nerve Hypoplasia And Atrophy?, Eye, 6,201-204.. Kjer, P. (1 959). Infantile Optic Atrophy With ...
Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.. Johnston RL1, Seller MJ ... To describe the clinical findings and refine the clinical diagnostic criteria for dominant optic atrophy based on eight British ... Simple clinical tests are highly efficacious in diagnosing dominant optic atrophy. Contrary to accepted criteria, symptoms ... in the context of a family with dominant optic atrophy, are highly suggestive of an individual being affected, even if the ...
Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients. *Optic ... 26 Studies found for: Leber hereditary optic neuropathy OR Hereditary Optic Atrophy ... Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey. *Leber Hereditary Optic Neuropathy (LHON) ... A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON). *Optic ...
List of 168 causes for Gait disturbances and Optic atrophy, alternative diagnoses, rare causes, misdiagnoses, patient stories, ... Optic atrophy:*159 causes: Optic atrophy *Introduction: Optic atrophy *Optic atrophy: Add a 3rd symptom *Optic atrophy: Remove ... Gait disturbances and Optic atrophy. *Gait disturbances AND Optic atrophy - Causes of All Symptoms *Gait disturbances OR Optic ... Gait disturbances and Optic atrophy and Ataxia (2 causes). *Gait disturbances and Optic atrophy and Balance symptoms (2 causes) ...
The authors report a rare case of severe bilateral optic atrophy as a sequela of thalassemia intermedia. After treatment with ... upon the optic nerves and chiasm. Second, the optic nerves were also compressed by narrowed optic canals resulting from ... The authors report a rare case of severe bilateral optic atrophy as a sequela of thalassemia intermedia. After treatment with ... The authors know of just three previously reported cases of optic atrophy secondary to expanded hematopoietic tissue in ...
... is the most prevalent hereditary optic neuropathy with moderate to severe visual field loss and loss of retinal ganglion cells ... Autosomal dominant optic atrophy (adOA) is the most prevalent hereditary optic neuropathy with moderate to severe visual field ... Kjer P, Jensen OA, Klinken L (1983) Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta ... Since mutations in the OPA1 gene specifically causes optic atrophy and occurrence of cerebral anomalies in adOA patients is not ...
Leber Optic Atrophy) - Pipeline Review, H1 2020 Summary This latest Pharmaceutical and Healthcare disease pipeline guide ... ... Lebers Hereditary Optic Neuropathy (Leber Optic Atrophy) - Pipeline Review, H1 2020. Summary. This latest Pharmaceutical and ... Lebers Hereditary Optic Neuropathy (Leber Optic Atrophy) - Pipeline Review, H1 2020 *March 2020 ... Leber Optic Atrophy) and features dormant and discontinued projects. The guide covers therapeutics under Development by ...
... optic atrophy is associated with vision loss. Optic atrophy is somewhat of a misnomer as atrophy implies disuse, and thus optic ... Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to ... refers to the death of the retinal ganglion cell axons that comprise the optic nerve with the resulting picture of a pale optic ... Since the optic nerve transmits retinal information to the brain, ...
Certain vitamins and supplements support the health of the optic nerve, and overall vision health is an issue. ... Learn about symptoms and recommendations for optic nerve atrophy. ... Glaucoma is characterized by optic nerve atrophy.. *Toxic optic neuropathy. Optic atrophy can result from nutritional ... Optic neuritis is caused by an inflamed optic nerve. In compressive optic neuropathy, lesions cause the optic nerve to become ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
  • Optic atrophy type 1 is caused by mutations in the OPA1 gene. (medlineplus.gov)
  • In rare cases, people who have an OPA1 gene mutation do not develop optic atrophy type 1, a situation known as reduced penetrance. (medlineplus.gov)
  • Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). (nih.gov)
  • Since mutations in the OPA1 gene specifically causes optic atrophy and occurrence of cerebral anomalies in adOA patients is not characteristic, this finding may suggest different cellular susceptibility of OPA1 in brain and retinal tissues. (springer.com)
  • Aijaz S, Erskine L, Jeffery G, Bhattacharya SS, Votruba M (2004) Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. (springer.com)
  • Dominant optic atrophy (OPA1) mapped to chromosome 3q region. (biomedsearch.com)
  • Twenty two patients from 17 families with decreased visual acuity related to optic atrophy and carrying an OPA1 mutation were enrolled. (arvojournals.org)
  • Lactate peak and cerebellar atrophy are consistent with the mitochondrial dysfunction related to OPA1 mutations. (arvojournals.org)
  • Cortical atrophy and white matter hypersignal suggest that OPA1 mutations result in widespread neuronal degeneration. (arvojournals.org)
  • Optic Atrophy 1 (OPA1) is an inner mitochondrial membrane protein that plays a fundamental role in mitochondrial fusion, quality control and respiratory function. (ahajournals.org)
  • The goal of this study is to determine whether increased optic atrophy type 1 (OPA1) expression protects against retinal ganglion cell (RGC) death in glaucomatous DBA/2J mice. (molvis.org)
  • OPA1 can directly modulate RGC survival, and increasing OPA1 expression may protect against RGC death in glaucomatous optic neuropathy. (molvis.org)
  • An additional 10 patients with optic atrophy and cerebellar atrophy, which were negative for mtDNA and OPA1 variants, were tested for pathogenic mutations in the SLC25A46 gene. (eur.nl)
  • Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. (docme.ru)
  • Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS and Votruba M: A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: Evidence for a founder effect. (spandidos-publications.com)
  • Moreover, M1 was administrated to the primary cardiomyocytes cultured in normal glucose medium (NG, 5.5 mmol/L) or high glucose (HG, 33 mnol/L). Results: Administration of M1 significantly promoted mitochondrial fusion and attenuated the reduction in optic atrophy 1 (Opa1) expression in diabetic hearts. (visualsonics.com)
  • Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations. (springer.com)
  • Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. (biomedcentral.com)
  • Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. (cam.ac.uk)
  • To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. (cam.ac.uk)
  • To identify novel candidate genes for inherited optic neuropathies we have undertaken whole exome sequencing (WES) in patients with syndromic or non syndromic optic atrophy without mutation in OPA1, OPA3, and mitochondrial DNA. (arvojournals.org)
  • Optic atrophy type 1 is caused by a genetic change (pathogenic variant or mutation) in the OPA1 gene. (malacards.org)
  • Dominant optic atrophy (DOA) in particular has been traced to mutations in the GTPase domain of OPA1, leading to sensorineural hearing loss, ataxia, sensorimotor neuropathy, progressive external ophthalmoplegia, and mitochondrial myopathy. (wikipedia.org)
  • Acquired ONA is more common than hereditary and congenital ONA and tends to occur later in life: Glaucoma, ischemic optic neuropathy (older), optic neuritis (younger), compressive (any age), and toxic/nutritional are leading causes in adults. (unboundmedicine.com)
  • Optic atrophy can occur due to damage within the eye (glaucoma, optic neuritis, papilledema, etc.), along the path of the optic nerve to the brain (tumor, neurodegenerative disorder, trauma, etc.), or it can be congenital (Leber's hereditary optic atrophy, autosomal dominant optic atrophy). (aao.org)
  • Optic neuritis is caused by an inflamed optic nerve. (naturaleyecare.com)
  • Optic neuritis is an inflammation of the optic nerve. (thefreedictionary.com)
  • Some patients with optic neuritis may develop multiple sclerosis later on in life. (thefreedictionary.com)
  • Paraneoplastic autoimmune optic neuritis with retinitis defined by CRMP-5-IgG. (docme.ru)
  • However, optic atrophy can occur after a bout of optic neuritis , or even in the partner (uneffected) eye over time. (healthtap.com)
  • Aggressive treatment of the underlying ms is the only way to try to prevent flares of optic neuritis and resultant optic atrophy . (healthtap.com)
  • I have optic neuritis from ms. Can i still get lasik? (healthtap.com)
  • How frequently is optic neuritis related to ms? (healthtap.com)
  • Optic neuritis (nmo) or multiple sclerosis (ms)? (healthtap.com)
  • I am terrified - how to figure out optic neuritis and multiple sclerosis (ms) risk? (healthtap.com)
  • His final diagnosis was ischemic optic neuritis followed by atrophy. (endocrine-abstracts.org)
  • Visual field defects in acute optic neuritis-distribution of different types of defect pattern, assessed with threshold-related supraliminal perimetry, ensuring high spatial resolution. (springer.com)
  • Thus, in fact the optic neuritis may lead to total visual loss, if not treated well in time. (elixcell.com)
  • Secondary to optic neuritis, retrobulbur neuritis and orbital tumours. (butanoblog.com)
  • Stroke of the optic nerve, known as anterior ischemic optic neuropathy. (clevelandclinic.org)
  • A hereditary condition in which the person experiences loss of vision first in one eye, and then in the other (known as Leber's hereditary optic neuropathy). (clevelandclinic.org)
  • Leber hereditary optic neuropathy Accessed 3/18/2015. (clevelandclinic.org)
  • The first human disease that was linked to a mutation in mitochondrial DNA was Leber's Hereditary Optic Neuropathy (LHON). (rochester.edu)
  • What is Leber's hereditary optic neuropathy (LHON)? (rochester.edu)
  • Autosomal dominant optic atrophy (adOA) is the most prevalent hereditary optic neuropathy with moderate to severe visual field loss and loss of retinal ganglion cells. (springer.com)
  • This latest Pharmaceutical and Healthcare disease pipeline guide Leber's Hereditary Optic Neuropathy - Pipeline Review, H1 2020, provides an overview of the Leber's Hereditary Optic Neuropathy (Ophthalmology) pipeline landscape. (reportlinker.com)
  • Leber's hereditary optic neuropathy (LHON) is an inherited form of vision loss. (reportlinker.com)
  • Pharmaceutical and Healthcare latest pipeline guide Leber's Hereditary Optic Neuropathy - Pipeline Review, H1 2020, provides comprehensive information on the therapeutics under development for Leber's Hereditary Optic Neuropathy (Ophthalmology), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type. (reportlinker.com)
  • The Leber's Hereditary Optic Neuropathy (Ophthalmology) pipeline guide also reviews of key players involved in therapeutic development for Leber's Hereditary Optic Neuropathy (Leber Optic Atrophy) and features dormant and discontinued projects. (reportlinker.com)
  • Leber's Hereditary Optic Neuropathy (Ophthalmology) pipeline guide helps in identifying and tracking emerging players in the market and their portfolios, enhances decision making capabilities and helps to create effective counter strategies to gain competitive advantage. (reportlinker.com)
  • The pipeline guide provides a snapshot of the global therapeutic landscape of Leber's Hereditary Optic Neuropathy (Ophthalmology). (reportlinker.com)
  • The pipeline guide reviews pipeline therapeutics for Leber's Hereditary Optic Neuropathy (Ophthalmology) by companies and universities/research institutes based on information derived from company and industry-specific sources. (reportlinker.com)
  • The pipeline guide reviews key companies involved in Leber's Hereditary Optic Neuropathy (Ophthalmology) therapeutics and enlists all their major and minor projects. (reportlinker.com)
  • The pipeline guide evaluates Leber's Hereditary Optic Neuropathy (Ophthalmology) therapeutics based on mechanism of action (MoA), drug target, route of administration (RoA) and molecule type. (reportlinker.com)
  • Find and recognize significant and varied types of therapeutics under development for Leber's Hereditary Optic Neuropathy (Ophthalmology). (reportlinker.com)
  • Optic atrophy is somewhat of a misnomer as atrophy implies disuse, and thus optic nerve damage is better termed optic neuropathy. (aao.org)
  • Anything that can compromise ganglion cell function can cause (over time) optic atrophy (and more broadly optic neuropathy). (aao.org)
  • Primary prevention (removal of the process causing the damage) is the goal to prevent loss of axons and optic atrophy (neuropathy). (aao.org)
  • Optic nerve atrophy, also known as optic neuropathy, simply defined, is the end result of any disease that damages nerve cells anywhere between the retina and a part of the thalamus that links the eye to the brain. (naturaleyecare.com)
  • In practice, optic neuropathy is not considered a disease, but rather a sign or symptom of potentially many disease processes. (naturaleyecare.com)
  • Ischemic optic neuropathy is caused by insufficient blood flow with an occlusion in blood supply vessels. (naturaleyecare.com)
  • One type, arteritic anterior ischemic optic neuropathy, is an ophthalmic emergency. (naturaleyecare.com)
  • In compressive optic neuropathy, lesions cause the optic nerve to become compressed. (naturaleyecare.com)
  • A similar condition in appearance is glaucomatous optic neuropathy. (naturaleyecare.com)
  • Infiltrative optic neuropathy occurs when the tumors or an inflammatory process invades the nerve or the space around it. (naturaleyecare.com)
  • Traumatic optic neuropathy develops after direct or indirect injury to the eye or sometimes to the back of the head. (naturaleyecare.com)
  • Mitochondria optic neuropathy involves failure in mitochondria functioning. (naturaleyecare.com)
  • Nutritional optic neuropathy occurs when nutritional deficiencies cause severe problems. (naturaleyecare.com)
  • Toxic optic neuropathy arises due to damage from various poisons, toxins, and some drugs. (naturaleyecare.com)
  • Hereditary optic neuropathy is caused by genetic mutations, including Leber's hereditary optic neuropathy. (naturaleyecare.com)
  • Bakaeva T, Mallery R, Prasad S. Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss. (harvard.edu)
  • Zakrzewski H, Modabber M, Wilson N, Al-Hertani W, Toffoli D. Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. (harvard.edu)
  • Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches. (harvard.edu)
  • Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS. Neurosci Lett. (harvard.edu)
  • Uhthoff's sign of optic neuropathy, and was found to be a heterozygous carrier of the mutation. (molvis.org)
  • Our results confirm genetic heterogeneity in arOA, illustrate clinical variability between families with the p.Arg55X mutation including the description of a mild phenotype in a heterozygote, and underscore the implication of mitochondrial proteins in optic and peripheral neuropathy. (molvis.org)
  • The most common toxic optic neuropathy is known as tobacco-alcohol amblyopia , thought to be caused by exposure to cyanide from tobacco smoking , and by low levels of vitamin B12 because of poor nutrition and poor absorption associated with drinking alcohol. (thefreedictionary.com)
  • Nutritional optic neuropathy may be caused by deficiencies of protein, or of the B vitamins and folate, associated with starvation , malabsorption, or alcoholism . (thefreedictionary.com)
  • Ann Neurol 2004;56:719 -723 Dominant optic atrophy (DOA),1 the most common form of hereditary optic neuropathy with a disease prevalence ranging between 1 to 10,000 and 1 to 50,000 in different populations,2 is a progressive disorder characterized by early-onset insidious bilateral loss of central vision. (docme.ru)
  • Visual recovery and its characteristics were investigated in patients with Leber's hereditary optic neuropathy (LHON) developed in teens. (nii.ac.jp)
  • Publications] Mashima Y, Sato EA, Oguchi Y: 'Detection of fonestrated central scotoma by scanning laser ophthalanoscopc microperimcery in a patient with Leber's hereditary optic neuropathy after visual recovery'Neuro-ophthalmology. (nii.ac.jp)
  • Publications] Yamada K, Mashima Y, Hiida Y, Oguchi Y: 'DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University hospital'Journal of Japanese Ophthalmological Society. (nii.ac.jp)
  • The most common cause is poor blood flow, called ischemic optic neuropathy, which most often affects elderly people. (drugster.info)
  • Posterior ischaemic optic neuropathy: clinical features, pathogenesis, and management. (springer.com)
  • We previously found that increased mitophagy (mitochondrial recycling) was associated with visual loss in another mitochondrial optic neuropathy, Leber hereditary optic neuropathy (LHON). (cam.ac.uk)
  • The most common forms of optic neuropathy are Leber hereditary optic neuropathy (LHON) with mitochondrial transmission (OMIM 535000) and autosomal dominant optic atrophy (OMIM 165500). (arvojournals.org)
  • This is a condition known as optic atrophy (or optic neuropathy). (visioneyeinstitute.com.au)
  • The condition can as well be referred to as Atrophic Optic Nerve , and/or optic neuropathy. (elixcell.com)
  • In majority of patients, it is either associated with multiple sclerosis (MS) or ischemic optic neuropathy (Blood Clot). (elixcell.com)
  • Optic Atrophy is somewhat of a misnomer as atrophy indicates degeneration and optic nerve damage is better termed optic neuropathy. (sanjeevan.in)
  • Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. (wikipedia.org)
  • Hereditary optic atrophies can be autosomal dominant, autosomal recessive, X-linked recessive, or maternal (mitochondrial DNA defects). (molvis.org)
  • Defects of TMEM126A, which encodes a mitochondrial protein of unknown function, cause optic atrophy type 7. (thefreedictionary.com)
  • Maresca A, la Morgia C, Caporali L, Valentino ML and Carelli V: The optic nerve: A 'mito-window' on mitochondrial neurodegeneration. (spandidos-publications.com)
  • Combined with our LHON findings, this implicates excessive mitochondrial fragmentation, dysregulated mitophagy, and impaired response to energetic stress in the pathogenesis of mitochondrial optic neuropathies, potentially linked with mitochondrial mislocalization and mtDNA depletion. (cam.ac.uk)
  • Using this approach disease causing mutations were found in 3 families within 3 different genes not previously implicated in optic atrophy but within pathways relevant to mitochondrial function. (arvojournals.org)
  • Optic atrophy which occurs in both eyes from time of birth (bilateral and congenital) may cause rhythmic, involuntary eye movements (nystagmus). (abilitypath.org)
  • The authors report a rare case of severe bilateral optic atrophy as a sequela of thalassemia intermedia. (aao.org)
  • Marked bilateral optic atrophy was present. (aao.org)
  • Optic atrophy is a frequent finding in classical MMA and most commonly is bilateral and sub-clinical. (arvojournals.org)
  • Over 20 years this patient successively developed thyrotoxicosis, myasthenia gravis, and idiopathic thrombocytopenic purpura and also had bilateral optic atrophy and sensorineural deafness. (annals.org)
  • An autosomal recessive condition (OMIM:612989) of juvenile onset characterised by severe bilateral loss of visual acuity, optic disk pallor, central scotoma, progressive visual loss and optic atrophy, with a loss in the number of nerve fibres arising in the retina that converge to form the optic disk, optic nerve, optic chiasm and optic tracts. (thefreedictionary.com)
  • Consequently, the infant had severe encephalitis that evolved with postnatal-onset microcephaly, bilateral optic atrophy, epilepsy and cerebral palsy. (ovid.com)
  • 3-Methylglutaconic Aciduria, Type III / Optic Atrophy 3, with Cataract [OPA3]: Type III 3-methylglutaconic aciduria is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. (jewishgeneticdiseases.org)
  • Bilateral optic atrophy is usually not caused by injury. (healthcaremagic.com)
  • Autosomal dominant optic atrophy (ADOA) is characterized by bilateral visual loss, preferential temporal disk pallor, dyschromatopsia, relative or absolute centrocoecalscotoma, and subnormal thickness of the retinal ganglion cell and nerve-fiber layers. (biomedcentral.com)
  • Hereditary optic atrophy is a mitochondrially inherited disease that results in bilateral subacute loss of central vision due to degeneration of retinal ganglion cells and the optic nerve. (meta.org)
  • If elevated intracranial pressure goes undetected, bilateral loss of vision can develop, because chronic papilledema often leads to gliosis and atrophy of the optic nerve. (aspeneducationgroup.com)
  • I found there are quite a few testmonial cases of optic atrophy who was treated with stem cell (umblical cord blood mesenchymal stem cell) in China. (medhelp.org)
  • The authors know of just three previously reported cases of optic atrophy secondary to expanded hematopoietic tissue in thalassemia. (aao.org)
  • 4 cases of optic atrophy (OA) have been reported in classical MMA on appropriate dietary restrictions. (arvojournals.org)
  • Optical coherence tomography (OCT) can be used to establish and monitor retinal nerve fiber layer (RNFL) thickness, but can be confounding in cases of optic atrophy due to papilledema, where RNFL thinning may mimic resolution of papilledema. (utah.edu)
  • Optic atrophy results from damage to the optic nerve from many different kinds of pathologies. (clevelandclinic.org)
  • Optic nerve atrophy (ONA) is mild to severe damage to the optic nerve that can adversely affect central vision, peripheral vision and color vision. (aapos.org)
  • Optic Nerve Atrophy (ONA) is a permanent visual impairment caused by damage to the optic nerve. (abilitypath.org)
  • ONA is the end result of damage to the optic nerve. (abilitypath.org)
  • Optic atrophy is the end stage of a process causing damage to the optic nerve. (aao.org)
  • Optic atrophy can be defined as damage to the optic nerve resulting in a degeneration or destruction of the optic nerve. (thefreedictionary.com)
  • Optic nerve atrophy is damage to the optic nerve. (drugster.info)
  • Damage to the optic nerve can also be hereditary (inherited) or caused by shock, radiation, toxic substances or trauma. (visioneyeinstitute.com.au)
  • Optic atrophy is damage to the optic nerve that causes degeneration or destruction of the optic nerve. (ucsd.edu)
  • damage to the optic nerve caused by chronic papillede-ma. (aspeneducationgroup.com)
  • Toxic and nutritional optic neuropathies are uncommon in the United States, but took on epidemic proportions in Cuba in 1992-1993. (thefreedictionary.com)
  • The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. (eur.nl)
  • In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. (eur.nl)
  • Comparison of the Pattern of Retinal Ganglion Cell Damage Between Patients With Compressive and Glaucomatous Optic Neuropathies. (semanticscholar.org)
  • Photopic ERGs in patients with optic neuropathies: comparison with primate ERGs after pharmacological blockade of inner retina. (springer.com)
  • Primary hereditary optic neuropathies comprise a group of disorders that are characterized by visual loss due to retinal ganglion cell death. (arvojournals.org)
  • Autosomal recessive optic neuropathies are uncommon and are mostly observed in association with multisystem diseases. (arvojournals.org)
  • It represents the end stage of an underlying pathologic process, typically developing 4-6 weeks after onset of symptoms in most optic neuropathies, even after recovery of some or all vision. (utah.edu)
  • NR2F1 mutations cause optic atrophy with intellectual disability. (wikipedia.org)
  • Our study showing that mutations in SSBP1 cause a form of dominant optic atrophy frequently accompanied with foveopathy brings insights into mtDNA maintenance disorders. (jci.org)
  • Our findings confirm the recent report of pathogenic SLC25A46 mutations as a novel cause for optic atrophy spectrum disorder. (eur.nl)
  • 2011}). Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness ({600965}) as well as a Wolfram syndrome-like phenotype ({614296}) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. (diseaseinfosearch.org)
  • Mutations in this gene have been implicated in dominant optic atrophy (DOA), leading to loss in vision, hearing, muscle contraction, and related dysfunctions. (wikipedia.org)
  • Nonsyndromic autosomal recessive optic atrophy (arOA) is extremely rare and its existence was disputed until a locus, optic atrophy 6 (OPA6), was mapped to 8q. (molvis.org)
  • By contrast, autosomal recessive forms of optic atrophy (arOA) are less frequent, and most cases are syndromic (e.g. (molvis.org)
  • Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). (diseaseinfosearch.org)
  • Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity. (wikipedia.org)
  • Family members received a domiciliary examination based on best-corrected visual acuity, color vision using Ishihara and Hardy Richter Rand (HRR) plates, confrontation field testing using a red target, and optic disc evaluation using a direct ophthalmoscope. (nih.gov)
  • A mild degree of temporal or diffuse pallor of the optic disc and minimal color vision defects, in the context of a family with dominant optic atrophy, are highly suggestive of an individual being affected, even if the visual acuity is normal. (nih.gov)
  • Diagnosis of OA was determined by a combination of visual acuity, pupil reactions, optic nerve appearances, OCT and VEP. (arvojournals.org)
  • Optic atrophy secondary to sickle cell hyphema can lead to permanent loss of visual acuity. (ophthalmologytimes.com)
  • Once the blood clot clears and the clinician can see through the anterior chamber to the optic nerve, Dr. Goldberg said, a 'nasty surprise' may await: optic atrophy with its associated loss of visual acuity on a permanent basis. (ophthalmologytimes.com)
  • Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. (nih.gov)
  • Diagnosis involves recognizing the characteristic changes in the optic disc with an ophthalmoscope, and measuring visual acuity, usually with an eye chart. (thefreedictionary.com)
  • in these two studies the clinical diagnosis was made on the basis of reduced visual acuity, abnormal color discrimination, fundus examination showing temporal pallor of the optic disc, and electrophysiology studies [toomes et al 2001, thiselton et al 2002]. (malacards.org)
  • Optic nerve function can be assessed with visual acuity, color vision testing, and quantitative perimetry. (utah.edu)
  • Your eye doctor will assess your colour vision, peripheral vision, pupil reaction to light, visual acuity, and will also look inside your eye with an instrument called an ophthalmoscope to determine whether your optic nerve appears pale. (visioneyeinstitute.com.au)
  • The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eye to the brain (optic nerves), which results in further vision loss. (medlineplus.gov)
  • Specialized extensions of retinal ganglion cells, called axons, form the optic nerves, so when retinal ganglion cells die, the optic nerves atrophy and cannot transmit visual information to the brain. (medlineplus.gov)
  • The optic nerve is a bundle of 1.2 million axons of retinal ganglion cells that carries visual information from the retina to the brain. (aao.org)
  • Optic atrophy (OPA) results from degeneration of the retinal ganglion cells whose axons form the optic nerve. (molvis.org)
  • Optic atrophy is a term that describes the finding of a pale optic nerve head, indicating the death of retinal ganglion cells due to injury at some point along their course from the retina to the lateral geniculate nucleus. (utah.edu)
  • Because there is currently no way of regenerating retinal ganglion cells in humans, vision loss due to optic atrophy is permanent. (utah.edu)
  • Optic atrophy is the finding of a pale optic nerve head, which indicates the death of retinal ganglion cells from any of a number of causes, including inflammation, infection, ischemia, compression, toxicity, trauma, or hereditary conditions. (utah.edu)
  • Medically, optic nerve atrophy can be linked with the sudden degeneration of retinal ganglion cells, which have been structured to form an optic nerve. (elixcell.com)
  • Bosch-Boonstra-Schaaf optic atrophy syndrome is an autosomal dominant disorder characterized by delayed development, moderate intellectual disability, and optic atrophy. (nih.gov)
  • Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. (inserm.fr)
  • Methanol, which is found in home-brewed alcohol, can cause optic nerve atrophy in both eyes. (drugster.info)
  • Optic Atrophy is a topic covered in the 5-Minute Clinical Consult . (unboundmedicine.com)
  • Optic nerve atrophy (ONA) is a clinical sign that is not specific for any single pathology and is therefore not an etiologic diagnosis. (unboundmedicine.com)
  • Is stem cell therapy in optic atrophy a standard clinical practice? (medhelp.org)
  • To describe the clinical findings and refine the clinical diagnostic criteria for dominant optic atrophy based on eight British families in which the diagnosis was confirmed by linkage analysis. (nih.gov)
  • Simple clinical tests are highly efficacious in diagnosing dominant optic atrophy. (nih.gov)
  • The hallmark clinical sign is optic disc pallor. (molvis.org)
  • Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter‑ and intra‑familial clinical variability. (spandidos-publications.com)
  • The severity of optic atrophy was graded according to clinical findings. (semanticscholar.org)
  • Optic atrophy should be included in the clinical spectrum of DRPLA. (biomedcentral.com)
  • Finding the right clinical trial for Diabetes mellitus AND insipidus with optic atrophy AND deafness can be challenging. (diseaseinfosearch.org)
  • To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA). (cdc.gov)
  • A complete diagnosis is based on optic nerve appearance, tests of visual function (visual field, contrast, color, acuity), identifying the causative factor of the damage, and ruling out other causes for vision loss (such as retinal causes). (aao.org)
  • History is critical in the diagnosis of optic atrophy since the physician needs to know how the eye arrived at this juncture. (aao.org)
  • A complete diagnosis based on optic nerve appearance, tests of visual function to identify the causative factor of the damage, and rule out other causes for vision loss. (sanjeevan.in)
  • Various eye diseases, most commonly glaucoma, can also cause a form of optic nerve atrophy. (drugster.info)
  • The following links may provide you with more information regarding glaucoma and optic atrophy and how you can help us find a cure. (ucsd.edu)
  • LHON causes a painless loss of central vision in both eyes, due to the death of optic nerve cells. (rochester.edu)
  • An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32. (jax.org)
  • Charif M, Roubertie A, Salime S, Mamouni S, Goizet C, Hamel CP and Lenaers G: A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability. (spandidos-publications.com)
  • The mutation has also been associated with optic atrophy 9 ( 616289 ). (arizona.edu)
  • Patients with optic nerve atrophy will be closely monitored by an ophthalmologist who has experience in neuro-ophthalmology. (drugster.info)
  • A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. (uniprot.org)
  • Atrophy of optic nerve fibres in compression of the chiasm. (gu.se)
  • The common factor to all three cases proved to be infection of the spheno-palatine sinuses with subsequent distension and compression of adjacent optic nerve(s) and optic chiasm. (nih.gov)
  • Orbital and brain neuroimaging revealed massive diffuse expansion of the diploe of the craniofacial bones, narrowing of the optic canals and expansion of hematopoietic tissue in the sellar region with compression of the optic chiasm. (aao.org)
  • First was the direct compressive effect of extramedullary hematopoietic tissue, arising from clivus and sphenoid bones, upon the optic nerves and chiasm. (aao.org)
  • Background: 20% of patients with acromegaly can have visual field defect due to compression of optic chiasm. (endocrine-abstracts.org)
  • This patient presented with visual field defect but no evidence of pressure effect on optic chiasm, but later found to have pituitary macroadenoma and acromegaly. (endocrine-abstracts.org)
  • MRI scan of the pituitary showed a 1.8 cm pituitary macroadenoma, which has suprasellar extension but no definite compression of the optic chiasm. (endocrine-abstracts.org)
  • Conclusion: In acromegaly field defect can occur without actual invasion of optic chiasm though it is rare. (endocrine-abstracts.org)
  • The optic nerves and optic chiasm were also thought to be atrophic by the interpreting neuroradiologist. (biomedcentral.com)
  • The case histories described each presented with a visual deficit, varying from permanent total blindness with ophthalmoscopic evidence of optic atrophy to variable and transient visual disturbances, including occasional blindness, but with absence of ophthalmoscopic or any other ocular abnormality. (nih.gov)
  • It seems from the history that your 6 year old is having nystagmus , optic atrophy and congenital stationary night blindness . (healthcaremagic.com)
  • In this case it is unlikely to be a cause for symptoms of nystagmus and optic atrophy as congenital stationary blindness classically causes these symptoms. (healthcaremagic.com)
  • Hence in this particular case birth injury looks like unlikely cause for nystagmus, optic atrophy and congenital stationary blindness. (healthcaremagic.com)
  • The process, once begun, can seem impossible to stop, resulting in total optic atrophy and blindness. (aspeneducationgroup.com)
  • Apparently in more advanced cases, it may indicate optic nerve abnormalities, neural damage, increased neural pressure and neurodegenerative disorders, such as multiple sclerosis. (elixcell.com)
  • Are we missing a good definition for optic atrophies, hereditary ? (definitions.net)
  • In the case of optic atrophy, something is interfering with the optic nerve's ability to transmit these impulses. (clevelandclinic.org)
  • There could be some interference with the optic nerve's ability to transmit these impulses, in the case of optic atrophy. (sanjeevan.in)
  • Many diseases and conditions may lead to optic atrophy. (abilitypath.org)
  • Rarely, conditions that lead to optic atrophy may be treatable. (drugster.info)
  • What are the symptoms of optic atrophy? (clevelandclinic.org)
  • Symptoms of optic atrophy are a change in the optic disc and a decrease in visual function. (thefreedictionary.com)
  • Signs and symptoms of optic atrophy type 1 include vision loss, difficulty distinguishing colors, and an abnormally pale appearance (pallor) of the optic nerve. (malacards.org)
  • Other symptoms of optic atrophy type 1 may include sensorineural hearing loss, difficulty coordinating movements (ataxia) and muscle disease (myopathy). (malacards.org)
  • This information refers to the general prevalence and incidence of these diseases, not to how likely they are to be the actual cause of Toxic causes of optic atrophy. (rightdiagnosis.com)
  • Medical practice is currently unable to return function (regrow axons) to an atrophic optic nerve, and at best is able to stabilize whatever function remains. (aao.org)
  • Conventional treatment regimen for atrophic optic nerve include, generalized physiotherapy related to eye and steroidal medications. (elixcell.com)
  • This family consists of several optic atrophy 3 (OPA3) proteins and related proteins from other eukaryotic species, the function is unknown. (ebi.ac.uk)
  • OPA3 or Type III 3-methylglutaconic aciduria, Wolfram syndrome, progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy syndrome). (molvis.org)
  • Kjer B, Eiberg H, Kjer P, Rosenberg T (1996) Dominant optic atrophy mapped to chromosome 3q region. (springer.com)
  • In syndromic optic atrophies, various neurologic and systemic abnormalities are present. (molvis.org)
  • Improper formation of the optic nerve, which is a congenital problem (the person is born with it). (clevelandclinic.org)
  • Can trauma during child birth cause nystagmus in both eyes and congenital optic atrophy? (healthcaremagic.com)
  • Question: My 6 year old has nystagmus in both eyes and congenital optic atrophy and CSNB. (healthcaremagic.com)
  • Brief Answer: Trauma is a rare cause for congenital opticatrophy Detailed Answer: Hello Welcome to Health care Magic. (healthcaremagic.com)
  • 54 Optic atrophy 1, also known as optic atrophy type 1 is a disease that affects the optic nerve. (malacards.org)
  • Optic atrophy refers to the permanent involution of the optic nerve resulting in an altered appearance, or pallor, of the optic nerve head. (aao.org)
  • Brain imaging disclosed abnormalities in 12 patients: aspecific white matter hypersignal (5 patients), cerebellar atrophy (5 patients), hemispheric cortical atrophy (1 patient), lactate peak (3 patients). (arvojournals.org)
  • This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy. (mcw.edu)
  • Here, we describe a Moroccan girl of consanguineous parents with optic atrophy and cerebellar atrophy. (eur.nl)
  • Cerebellar brain imaging shows progressive atrophy in all patients and some have cortical atrophy as well. (arizona.edu)
  • In nonsyndromic optic atrophies, optic nerve degeneration is the only feature of the disease. (molvis.org)
  • Optic atrophy refers to damage to, or degeneration of the optic nerve due to any cause. (visioneyeinstitute.com.au)
  • Our treatment helps in stopping the damage of the nerve cells between retinal ganglion cell axons and the lateral geniculate body (anterior visual system) thereby stopping any further degeneration of the optic nerve. (sanjeevan.in)
  • To determine the presence of and to describe any anatomical changes in the optic nerve head and retina observed following the administration of a single IVT injection of QPI 1007. (clinicaltrials.gov)
  • Damage from papilledema may leave retinal folds and sometimes glistening bodies in the optic nerve head. (aao.org)
  • Optic atrophy may also be referred to as optic nerve head pallor because of the pale appearance of the optic nerve head as seen at the back of the eye. (thefreedictionary.com)
  • Using a hand-held instrument called an ophthalmoscope, the doctor can see the optic nerve head (optic disc) which is the part of the optic nerve that enters at the back of the eyeball. (thefreedictionary.com)
  • Optic atrophy in a nerve head with glaucomatous changes. (utah.edu)
  • Glistening bodies and retinal folds may be left in the optic nerve head as a result of the damage from papilledema. (sanjeevan.in)
  • Correlation between photopic negative response and retinal nerve fiber layer thickness and optic disc topography in glaucomatous eyes. (springer.com)
  • In optic nerve atrophy there is loss of axons and shrinkage of myelin leading to gliosis and widening of the optic cup. (aao.org)
  • Severe optic atrophy with gliosis again in an elderly person could have been due to giant cell arteritis. (aao.org)
  • In optic nerve atrophy nerve fibers atrophy and are lost, the protective myelin sheath around them shrinks, gliosis occurs and the optic cup (where the optic nerve enters the retina) widens. (naturaleyecare.com)
  • When optic atrophy is unilateral protection of the good eye is essential and wearing of protective lenses should be stressed. (aapos.org)
  • Oscillatory potentials of the electroretinogram in patients with unilateral optic atrophy. (semanticscholar.org)
  • The oscillatory potentials (OP) of the electroretinogram (ERG) of 26 patients with unilateral optic atrophy were studied. (semanticscholar.org)
  • Birth trauma is a relatively rare cause for unilateral optic atrophy. (healthcaremagic.com)
  • Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. (biomedsearch.com)
  • Kjer P (1956) Infantile optic atrophy with dominant transmission. (springer.com)
  • Kjer P, Jensen OA, Klinken L (1983) Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. (springer.com)
  • An autosomal dominant disease characterized by progressive visual loss in association with optic atrophy. (uniprot.org)
  • Graves disease: Antibodies attack orbital tissues including extraocular muscles, leading to muscle thickening and increased content of the orbit, which can result in compression of the optic nerve. (unboundmedicine.com)
  • Optic atrophy is not a disease, but rather a sign of a potentially more serious condition. (clevelandclinic.org)
  • Quantification of the nerve fiber layer height and comparison with normative data can document axon loss and differentiate between optic nerve and retinal disease as a cause for vision loss. (aao.org)
  • Leber's hereditary optic neuroretinopathy, a maternally inherited disease. (nii.ac.jp)
  • Left untreated, this disease may result in optic atrophy. (thefreedictionary.com)
  • Complications are related to the disease that causes the atrophy. (drugster.info)
  • Dentatorubropallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease that is associated with numerous movement disorders. (biomedcentral.com)
  • Search GEO for disease gene expression data for Partial Optic Atrophy. (malacards.org)
  • Optic atrophy type 1 may be suspected when a person has signs and symptoms of the disease on an exam done by an ophthalmologist. (malacards.org)
  • Familial disorders: Tay-Sachs disease, Retinitis pigmentosa, Leber's hereditary optic atraphy. (butanoblog.com)
  • We describe an African-American man with DRPLA who presented with progressive visual loss associated with optic atrophy, gradually progressive ataxia, dystonia and severe leukoencephalopathy. (biomedcentral.com)
  • In severe variety it leads to optic atrophy and nystagmus. (healthcaremagic.com)