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)

Optic atrophy is a condition where there is a degeneration or loss of the optic nerve fibers, leading to vision loss. It can be caused by various factors such as trauma, inflammation, tumors, and certain medical conditions like multiple sclerosis.

The symptoms of optic atrophy may include:

1. Blind spots in the visual field
2. Difficulty perceiving colors
3. Difficulty adjusting to bright light
4. Double vision or other abnormalities in binocular vision
5. Eye pain or discomfort
6. Loss of peripheral vision
7. Nausea and vomiting
8. Sensitivity to light
9. Tunnel vision
10. Weakness or numbness in the face or extremities.

The diagnosis of optic atrophy is based on a comprehensive eye exam, which includes a visual acuity test, dilated eye exam, and other specialized tests such as an OCT (optical coherence tomography) scan.

Treatment for optic atrophy depends on the underlying cause and may include medications to manage inflammation or infection, surgery to remove a tumor or repair damaged tissue, or management of associated conditions such as diabetes or multiple sclerosis. In some cases, vision loss due to optic atrophy may be permanent and cannot be reversed, but there are strategies to help improve remaining vision and adapt to any visual impairment.

The symptoms of optic atrophy, autosomal dominant typically begin in adulthood and may include:

* Gradual loss of vision in one or both eyes
* Blurred vision
* Difficulty with peripheral vision
* Sensitivity to light
* Eye pain
* Abnormal eye movements

The condition is caused by mutations in several genes that are responsible for the structure and function of the optic nerve. The exact cause of the condition can be determined through genetic testing.

There is no cure for optic atrophy, autosomal dominant, but treatment may include:

* Glasses or contact lenses to correct refractive errors
* Prism glasses to improve vision
* Low vision aids such as telescopes or magnifying glasses
* Counseling and support to help cope with the visual loss.

The progression of the condition can vary widely, and some people may experience a rapid decline in vision while others may remain stable for many years. Regular monitoring by an eye care professional is important to monitor for any changes in vision and to adjust treatment as needed.

There are several types of atrophy that can occur in different parts of the body. For example:

1. Muscular atrophy: This occurs when muscles weaken and shrink due to disuse or injury.
2. Neuronal atrophy: This occurs when nerve cells degenerate, leading to a loss of cognitive function and memory.
3. Cardiac atrophy: This occurs when the heart muscle weakens and becomes less efficient, leading to decreased cardiac output.
4. Atrophic gastritis: This is a type of stomach inflammation that can lead to the wasting away of the stomach lining.
5. Atrophy of the testes: This occurs when the testes shrink due to a lack of use or disorder, leading to decreased fertility.

Atrophy can be diagnosed through various medical tests and imaging studies, such as MRI or CT scans. Treatment for atrophy depends on the underlying cause and may involve physical therapy, medication, or surgery. In some cases, atrophy can be prevented or reversed with proper treatment and care.

In summary, atrophy is a degenerative process that can occur in various parts of the body due to injury, disease, or disuse. It can lead to a loss of function and decreased quality of life, but with proper diagnosis and treatment, it may be possible to prevent or reverse some forms of atrophy.

The main symptoms of Wolfram syndrome include:

1. Diabetes insipidus (DI): A rare form of diabetes that affects the body's ability to regulate fluid levels.
2. Diabetes mellitus (DM): A common form of diabetes that affects blood sugar levels.
3. Optic atrophy: Degeneration of the nerve cells in the optic nerve, leading to vision loss and blindness.
4. Deafness: Hearing loss or complete deafness.
5. Hypogonadism: Low levels of sex hormones, which can lead to delayed or absent puberty.
6. Growth retardation: Delayed growth and development.
7. Intellectual disability: Cognitive impairment and learning difficulties.
8. Skeletal abnormalities: Abnormalities of the bones, such as short stature, scoliosis, or clubfoot.
9. Neurological symptoms: Such as seizures, ataxia, and peripheral neuropathy.

Wolfram syndrome is a rare and complex disorder, and there is currently no cure. Treatment focuses on managing the symptoms and preventing complications. Hormone replacement therapy may be used to treat hypogonadism, and insulin therapy may be used to manage diabetes. Physical therapy and occupational therapy can help improve mobility and independence. Regular monitoring by a multidisciplinary healthcare team is essential for managing the condition and improving the quality of life for individuals with Wolfram syndrome.

Definition of 'Optic Atrophy, Hereditary, Leber' in the medical field. (2018, February 27). In Medical News Today, . Retrieved from

There are several types of muscular atrophy, including:

1. Disuse atrophy: This type of atrophy occurs when a muscle is not used for a long period, leading to its degeneration.
2. Neurogenic atrophy: This type of atrophy occurs due to damage to the nerves that control muscles.
3. Dystrophic atrophy: This type of atrophy occurs due to inherited genetic disorders that affect muscle fibers.
4. Atrophy due to aging: As people age, their muscles can degenerate and lose mass and strength.
5. Atrophy due to disease: Certain diseases such as cancer, HIV/AIDS, and muscular dystrophy can cause muscular atrophy.
6. Atrophy due to infection: Infections such as polio and tetanus can cause muscular atrophy.
7. Atrophy due to trauma: Traumatic injuries can cause muscular atrophy, especially if the injury is severe and leads to prolonged immobilization.

Muscular atrophy can lead to a range of symptoms depending on the type and severity of the condition. Some common symptoms include muscle weakness, loss of motor function, muscle wasting, and difficulty performing everyday activities. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, medication, and lifestyle changes such as exercise and dietary modifications. In severe cases, surgery may be necessary to restore muscle function.

The symptoms of optic neuritis may include:

* Blurred vision or loss of vision
* Eye pain or pressure
* Sensitivity to light
* Dimness of colors
* Difficulty moving the eyes
* Numbness or weakness in the face

The cause of optic neuritis is not always known, but it is believed to be related to an abnormal immune response. In MS, optic neuritis is thought to be triggered by the immune system attacking the protective covering of nerve fibers in the central nervous system.

Treatment for optic neuritis depends on the underlying cause. In cases of MS, treatment with corticosteroids can help reduce inflammation and slow the progression of the disease. In other conditions, treatment may involve addressing the underlying cause, such as an infection or a tumor.

Prognosis for optic neuritis varies depending on the underlying cause. In MS, the condition can recur and lead to long-term vision loss if left untreated. However, with prompt treatment and management, many people with MS experience significant improvement in their vision.

There are several subtypes of HSMN, each with distinct clinical features and inheritance patterns. Some of the most common forms of HSMN include:

1. Charcot-Marie-Tooth disease (CMT): This is the most common form of HSMN, accounting for about 70% of all cases. CMT is caused by mutations in genes that code for proteins involved in the structure and function of peripheral nerves.
2. Hereditary motor and sensory neuropathy (HMSN): This is a group of disorders that affect both the sensory and motor nerves, leading to a range of symptoms including weakness, wasting of muscles, and loss of sensation.
3. Spastic paraparesis (SP): This is a rare form of HSMN that is characterized by weakness and stiffness in the legs, as well as spasticity (increased muscle tone).
4. Hereditary neuropathy with liability to pressure palsies (HNPP): This is a rare form of HSMN that is caused by mutations in the PMP22 gene, which codes for a protein involved in the structure and function of peripheral nerves.

The symptoms of HSMN can vary widely depending on the specific subtype and the severity of the condition. Common symptoms include:

* Weakness and muscle wasting
* Numbness and tingling sensations
* Loss of sensation in the hands and feet
* Muscle cramps and spasms
* Difficulty walking or maintaining balance

There is no cure for HSMN, but treatment options are available to manage symptoms and slow the progression of the disease. These may include:

* Physical therapy to improve muscle strength and mobility
* Occupational therapy to improve daily functioning and independence
* Pain management medications
* Orthotics and assistive devices to aid mobility and balance
* Injections or infusions of immunoglobulins to reduce inflammation and demyelination

It is important for individuals with HSMN to receive regular monitoring and care from a healthcare team, including a neurologist, physical therapist, and other specialists as needed. With appropriate management, many individuals with HSMN are able to lead active and fulfilling lives.

The term "papilledema" comes from the Greek words "papilla," meaning "little nipple," and "dema," meaning "swelling." This refers to the appearance of the optic disc when it is swollen, as it looks like a small, round nipple on the surface of the retina.

Papilledema can be caused by a variety of conditions, including high blood pressure, brain tumors, and aneurysms. It can also be a symptom of other conditions such as meningitis or multiple sclerosis. The diagnosis of papilledema is typically made through a comprehensive eye exam, which includes visual acuity testing, refraction, and retinoscopy. Imaging tests such as MRI or CT scans may also be used to evaluate the cause of the swelling.

Treatment of papilledema depends on the underlying cause of the condition. In cases where high blood pressure is the cause, medication to lower blood pressure may be prescribed. In other cases, surgery or other interventions may be necessary to relieve pressure on the brain and reduce swelling in the optic disc.

It's important for individuals with papilledema to work closely with their healthcare provider to monitor and manage their condition, as untreated papilledema can lead to permanent vision loss.

Types of Optic Nerve Injuries:

1. Traumatic optic neuropathy: This type of injury is caused by direct damage to the optic nerve as a result of trauma, such as a car accident or sports injury.
2. Ischemic optic neuropathy: This type of injury is caused by a lack of blood flow to the optic nerve, which can lead to cell death and vision loss.
3. Inflammatory optic neuropathy: This type of injury is caused by inflammation of the optic nerve, which can be caused by conditions such as multiple sclerosis or sarcoidosis.
4. Tumor-induced optic neuropathy: This type of injury is caused by a tumor that compresses or damages the optic nerve.
5. Congenital optic nerve disorders: These are present at birth and can cause vision loss or blindness. Examples include optic nerve hypoplasia and coloboma.

Symptoms of Optic Nerve Injuries:

* Blurred vision or double vision
* Loss of peripheral vision
* Difficulty seeing in dim lighting
* Pain or discomfort in the eye or head
* Redness or swelling of the eye

Diagnosis and Treatment of Optic Nerve Injuries:

Diagnosis is typically made through a combination of physical examination, imaging tests such as MRI or CT scans, and visual field testing. Treatment depends on the underlying cause of the injury, but may include medication, surgery, or vision rehabilitation. In some cases, vision loss may be permanent, but early diagnosis and treatment can help to minimize the extent of the damage.

Prognosis for Optic Nerve Injuries:

The prognosis for optic nerve injuries varies depending on the underlying cause and severity of the injury. In some cases, vision may be partially or fully restored with treatment. However, in other cases, vision loss may be permanent. It is important to seek medical attention immediately if any symptoms of an optic nerve injury are present, as early diagnosis and treatment can improve outcomes.

There are different types of SMA, ranging from mild to severe, with varying degrees of muscle wasting and weakness. The condition typically becomes apparent during infancy or childhood and can progress rapidly or slowly over time. Symptoms may include muscle weakness, spinal curvature (scoliosis), respiratory problems, and difficulty swallowing.

SMA is caused by a defect in the Survival Motor Neuron 1 (SMN1) gene, which is responsible for producing a protein that protects motor neurons from degeneration. The disorder is usually inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene - one from each parent - to develop the condition.

There is currently no cure for SMA, but various treatments are available to manage its symptoms and slow its progression. These may include physical therapy, occupational therapy, bracing, and medications to improve muscle strength and function. In some cases, stem cell therapy or gene therapy may be considered as potential treatment options.

Prognosis for SMA varies depending on the type and severity of the condition, but it is generally poor for those with the most severe forms of the disorder. However, with appropriate management and support, many individuals with SMA can lead fulfilling lives and achieve their goals despite physical limitations.

Some common types of vision disorders include:

1. Myopia (nearsightedness): A condition where close objects are seen clearly, but distant objects appear blurry.
2. Hyperopia (farsightedness): A condition where distant objects are seen clearly, but close objects appear blurry.
3. Astigmatism: A condition where the cornea or lens of the eye is irregularly shaped, causing blurred vision at all distances.
4. Presbyopia: A condition that occurs as people age, where the lens of the eye loses flexibility and makes it difficult to focus on close objects.
5. Amblyopia (lazy eye): A condition where one eye has reduced vision due to abnormal development or injury.
6. Strabismus (crossed eyes): A condition where the eyes are misaligned and point in different directions.
7. Color blindness: A condition where people have difficulty perceiving certain colors, usually red and green.
8. Retinal disorders: Conditions that affect the retina, such as age-related macular degeneration, diabetic retinopathy, or retinal detachment.
9. Glaucoma: A group of conditions that damage the optic nerve, often due to increased pressure in the eye.
10. Cataracts: A clouding of the lens in the eye that can cause blurred vision and sensitivity to light.

Vision disorders can be diagnosed through a comprehensive eye exam, which includes a visual acuity test, refraction test, and dilated eye exam. Treatment options for vision disorders depend on the specific condition and may include glasses or contact lenses, medication, surgery, or a combination of these.

There are different types of blindness, including:

1. Congenital blindness: Blindness that is present at birth, often due to genetic mutations or abnormalities in the development of the eye and brain.
2. Acquired blindness: Blindness that develops later in life due to injury, disease, or other factors.
3. Amblyopia: A condition where one eye has reduced vision due to misalignment or other causes.
4. Glaucoma: A group of eye conditions that can damage the optic nerve and lead to blindness if left untreated.
5. Retinitis pigmentosa: A degenerative disease that affects the retina and can cause blindness.
6. Cataracts: A clouding of the lens in the eye that can impair vision and eventually cause blindness if left untreated.
7. Macular degeneration: A condition where the macula, a part of the retina responsible for central vision, deteriorates and causes blindness.

There are various treatments and therapies for blindness, depending on the underlying cause. These may include medications, surgery, low vision aids, and assistive technology such as braille and audio books, screen readers, and voice-controlled software. Rehabilitation programs can also help individuals adapt to blindness and lead fulfilling lives.

The parasite migrates to various tissues throughout the body, including the skin, subcutaneous tissue, and eyes. In the eye, the parasite can cause inflammation and damage to the retina, optic nerve, and choroid, leading to visual impairment and blindness.

The most common form of ocular onchocerciasis is trachoma, which affects the conjunctiva and cornea. Trachoma is responsible for 2.8% of all global blindness and 9.6% of all infectious blindness.

Ocular onchocerciasis can be diagnosed through a combination of physical examination, imaging studies, and laboratory tests, such as PCR or ELISA. Treatment options include antiparasitic drugs, such as ivermectin, which is effective against the adult worms, and surgery to remove inflamed tissue.

Prevention of ocular onchocerciasis includes vector control measures, such as using insecticides to kill infected blackflies, and mass drug administration (MDA) programs to eliminate the parasite in endemic areas.

There are many different types of eye diseases, including:

1. Cataracts: A clouding of the lens in the eye that can cause blurry vision and blindness.
2. Glaucoma: A group of diseases that damage the optic nerve and can lead to vision loss and blindness.
3. Age-related macular degeneration (AMD): A condition that causes vision loss in older adults due to damage to the macula, the part of the retina responsible for central vision.
4. Diabetic retinopathy: A complication of diabetes that can cause damage to the blood vessels in the retina and lead to vision loss.
5. Detached retina: A condition where the retina becomes separated from the underlying tissue, leading to vision loss.
6. Macular hole: A small hole in the macula that can cause vision loss.
7. Amblyopia (lazy eye): A condition where one eye is weaker than the other and has reduced vision.
8. Strabismus (crossed eyes): A condition where the eyes are not aligned properly and point in different directions.
9. Conjunctivitis: An inflammation of the conjunctiva, the thin membrane that covers the white part of the eye and the inside of the eyelids.
10. Dry eye syndrome: A condition where the eyes do not produce enough tears, leading to dryness, itchiness, and irritation.

Eye diseases can be caused by a variety of factors, including genetics, age, environmental factors, and certain medical conditions. Some eye diseases are inherited, while others are acquired through lifestyle choices or medical conditions.

Symptoms of eye diseases can include blurry vision, double vision, eye pain, sensitivity to light, and redness or inflammation in the eye. Treatment options for eye diseases depend on the specific condition and can range from medication, surgery, or lifestyle changes.

Regular eye exams are important for detecting and managing eye diseases, as many conditions can be treated more effectively if caught early. If you experience any symptoms of eye disease or have concerns about your vision, it is important to see an eye doctor as soon as possible.

It is important to note that this condition can be caused by various factors such as diabetes, high blood pressure, and certain medications. It can also be a symptom of other underlying conditions such as carotid artery disease or aneurysm.

Causes:

* Reduced blood flow to the optic nerve due to various factors such as diabetes, high blood pressure, and certain medications
* Other underlying conditions such as carotid artery disease or aneurysm

Symptoms:

* Vision loss or blindness in one or both eyes
* Blurred vision or double vision
* Loss of peripheral vision
* Sensitivity to light

Diagnosis:

* Dilated eye exam
* Imaging tests such as MRI or CT scans
* Blood tests to check for underlying conditions such as diabetes or high blood pressure

Treatment:

* Treatment of underlying conditions such as diabetes or high blood pressure
* Medications to improve blood flow to the optic nerve
* Surgery to repair any blockages in the carotid artery or other underlying conditions.

The term "multiple system atrophy" was first used in 1985 to describe this condition, which was previously known as "parkinsonism-dementia." MSA is classified into two main types: cerebellar type (MSA-C) and parkinsonian type (MSA-P). The cerebellar type is characterized by progressive cerebellar ataxia, loss of coordination, and balance problems, while the parkinsonian type is characterized by parkinsonism, rigidity, and bradykinesia.

The exact cause of MSA is not known, but it is believed to be related to abnormal protein accumulation in the brain and mitochondrial dysfunction. There is currently no cure for MSA, and treatment is focused on managing symptoms and improving quality of life. The progression of MSA is variable and can range from several years to several decades.

MSA is a rare disorder, with an estimated prevalence of 5-10 cases per million people worldwide. It affects both men and women equally, and the symptoms typically begin in adulthood, although some cases may present in children or older adults. The diagnosis of MSA is based on a combination of clinical features, imaging studies, and laboratory tests, including dopamine transporter scans and CSF analysis.

There are several prominent features of MSA that distinguish it from other neurodegenerative disorders, such as Parkinson's disease or Alzheimer's disease. These include:

1. Autonomic dysfunction: MSA is characterized by a range of autonomic dysfunctions, including orthostatic hypotension, urinary incontinence, and constipation.
2. Cerebellar ataxia: MSA is often associated with progressive cerebellar ataxia, which can lead to difficulties with coordination, balance, and gait.
3. Pyramidal signs: MSA can also present with pyramidal signs, such as bradykinesia, rigidity, and tremors, which are similar to those seen in Parkinson's disease.
4. Dysphagia: Many individuals with MSA experience difficulty swallowing, known as dysphagia, which can increase the risk of aspiration pneumonia.
5. Cognitive impairment: Some people with MSA may experience cognitive impairment, including memory loss and confusion.
6. Sleep disorders: MSA can also be associated with sleep disorders, such as rapid eye movement sleep behavior disorder and restless leg syndrome.
7. Emotional changes: MSA can cause significant emotional changes, including depression, anxiety, and apathy.
8. Impaired speech and language: Some individuals with MSA may experience impaired speech and language, including slurred speech and difficulty with word-finding.
9. Dysautonomia: MSA can also cause dysautonomia, which can lead to a range of symptoms, such as orthostatic hypotension, hypertension, and abnormal sweating.
10. Bladder and bowel dysfunction: MSA can cause bladder and bowel dysfunction, including urinary frequency, urgency, and constipation.

It is important to note that not all individuals with MSA will experience all of these symptoms, and the severity of the disease can vary greatly between individuals. If you suspect you or a loved one may be experiencing symptoms of MSA, it is essential to consult with a healthcare professional for proper diagnosis and treatment.

Mitochondrial diseases can affect anyone, regardless of age or gender, and they can be caused by mutations in either the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). These mutations can be inherited from one's parents or acquired during embryonic development.

Some of the most common symptoms of mitochondrial diseases include:

1. Muscle weakness and wasting
2. Seizures
3. Cognitive impairment
4. Vision loss
5. Hearing loss
6. Heart problems
7. Neurological disorders
8. Gastrointestinal issues
9. Liver and kidney dysfunction

Some examples of mitochondrial diseases include:

1. MELAS syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes)
2. Kearns-Sayre syndrome (a rare progressive disorder that affects the nervous system and other organs)
3. Chronic progressive external ophthalmoplegia (CPEO), which is characterized by weakness of the extraocular muscles and vision loss
4. Mitochondrial DNA depletion syndrome, which can cause a wide range of symptoms including seizures, developmental delays, and muscle weakness.
5. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
6. Leigh syndrome, which is a rare genetic disorder that affects the brain and spinal cord.
7. LHON (Leber's Hereditary Optic Neuropathy), which is a rare form of vision loss that can lead to blindness in one or both eyes.
8. Mitochondrial DNA mutation, which can cause a wide range of symptoms including seizures, developmental delays, and muscle weakness.
9. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
10. Kearns-Sayre syndrome, which is a rare progressive disorder that affects the nervous system and other organs.

It's important to note that this is not an exhaustive list and there are many more mitochondrial diseases and disorders that can affect individuals. Additionally, while these diseases are rare, they can have a significant impact on the quality of life of those affected and their families.

There are two main types of DI: central diabetes insipidus (CDI) and nephrogenic diabetes insipidus (NDI). CDI is caused by a defect in the hypothalamus or pituitary gland, which can lead to a lack of vasopressin. NDI is caused by a problem with the kidneys, which can prevent them from responding properly to vasopressin.

Symptoms of DI include excessive thirst and urination, fatigue, headaches, and dehydration. Treatment for DI typically involves replacing vasopressin through injections or oral medications, as well as addressing any underlying causes. In some cases, DI can be managed with desmopressin, a synthetic version of vasopressin.

Overall, diabetes insipidus is a rare and complex condition that requires careful management to prevent complications such as dehydration and electrolyte imbalances.

The symptoms of MCD typically begin in early childhood and can vary in severity from person to person. In addition to the myoclonic movements, individuals with MCD may experience difficulty walking, tremors, and a wide range of other motor abnormalities. Cognitive function is usually unaffected, but speech and language skills may be impaired.

The exact cause of MCD is not yet fully understood, although it is thought to be related to abnormalities in the cerebellum and other parts of the brain. Genetic factors are also suspected to play a role, as the disorder can run in families. There is currently no cure for MCD, but various treatments such as physical therapy, occupational therapy, and medications may be helpful in managing the symptoms.

In summary, Myoclonic Cerebellar Dyssynergia (MCD) is a rare neurological disorder that affects the cerebellum and causes involuntary movements of the limbs, as well as difficulties with coordination, balance, and speech. It typically begins in early childhood and can vary in severity from person to person. While there is currently no cure for MCD, various treatments may be helpful in managing the symptoms.

Low vision is not the same as blindness, but it does affect an individual's ability to perform daily activities such as reading, driving, and recognizing faces. The condition can be treated with low vision aids such as specialized glasses, telescopes, and video magnifiers that enhance visual acuity and improve the ability to see objects and details more clearly.

In the medical field, Low Vision is often used interchangeably with the term "visual impairment" which refers to any degree of vision loss that cannot be corrected by regular glasses or contact lenses. Visual impairment can range from mild to severe and can have a significant impact on an individual's quality of life.

Low Vision is a common condition among older adults, with approximately 20% of people over the age of 65 experiencing some degree of visual impairment. However, Low Vision can also affect younger individuals, particularly those with certain eye conditions such as retinitis pigmentosa or other inherited eye disorders.

Overall, Low Vision is a condition that affects an individual's ability to see clearly and perform daily activities, and it is important for individuals experiencing vision loss to seek medical attention to determine the cause of their symptoms and explore available treatment options.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

There are several types of spinal muscular atrophies, including:

Type 1 (Werdnig-Hoffmann disease): This is the most severe form of SMA, characterized by complete paralysis and life-threatening respiratory problems. It is usually diagnosed in infancy and children typically die before the age of two.

Type 2 (Dubowitz disease): This type of SMA is less severe than Type 1, but still causes significant muscle weakness and wasting. Children with this condition may be able to sit, stand, and walk with support, but will eventually lose these abilities as the disease progresses.

Type 3 (Kugelberg-Welander disease): This is an adult-onset form of SMA that causes slowly progressive muscle weakness and wasting. It can be mild or severe and may affect individuals in their teens to mid-life.

The symptoms of spinal muscular atrophies vary depending on the type and severity of the disorder, but may include:

* Muscle weakness and wasting, particularly in the limbs and trunk
* Difficulty breathing and swallowing
* Delayed development of motor skills such as sitting, standing, and walking
* Weakness of facial muscles, leading to a "floppy" appearance
* Poor reflexes and decreased muscle tone

The exact cause of spinal muscular atrophies is not fully understood, but genetics play a role. The disorders are caused by mutations in a gene called the survival motor neuron (SMN) gene, which is responsible for producing a protein that helps maintain the health of nerve cells. Without this protein, nerve cells die, leading to muscle weakness and wasting.

There is currently no cure for spinal muscular atrophies, but treatment options are available to help manage symptoms and improve quality of life. These may include:

* Physical therapy to maintain muscle strength and flexibility
* Occupational therapy to develop coping strategies and assist with daily activities
* Medications to manage muscle spasms and other symptoms
* Respiratory support, such as ventilation, for individuals with severe forms of the disorder
* Nutritional support to ensure adequate nutrition and hydration

Overall, spinal muscular atrophies are a group of rare genetic disorders that can cause muscle weakness and wasting, particularly in the limbs and trunk. While there is currently no cure, treatment options are available to help manage symptoms and improve quality of life. With appropriate care and support, individuals with spinal muscular atrophies can lead fulfilling lives.

* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.

Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:

* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking

There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:

* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.

In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.

Causes:

* Genetic mutations or deletions
* Infections such as meningitis or encephalitis
* Stroke or bleeding in the brain
* Traumatic head injury
* Multiple sclerosis or other demyelinating diseases
* Brain tumors
* Cerebellar degeneration due to aging

Symptoms:

* Coordination difficulties, such as stumbling or poor balance
* Tremors or shaky movements
* Slurred speech and difficulty with fine motor skills
* Nystagmus (involuntary eye movements)
* Difficulty with gait and walking
* Fatigue, weakness, and muscle wasting

Diagnosis:

* Physical examination and medical history
* Neurological examination to test coordination, balance, and reflexes
* Imaging studies such as MRI or CT scans to rule out other conditions
* Genetic testing to identify inherited forms of cerebellar ataxia
* Electromyography (EMG) to test muscle activity and nerve function

Treatment:

* Physical therapy to improve balance, coordination, and gait
* Occupational therapy to help with daily activities and fine motor skills
* Speech therapy to address slurred speech and communication difficulties
* Medications to manage symptoms such as tremors or spasticity
* Assistive devices such as canes or walkers to improve mobility

Prognosis:

* The prognosis for cerebellar ataxia varies depending on the underlying cause. In some cases, the condition may be slowly progressive and lead to significant disability over time. In other cases, the condition may remain stable or even improve with treatment.

Living with cerebellar ataxia can be challenging, but there are many resources available to help individuals with the condition manage their symptoms and maintain their quality of life. These resources may include:

* Physical therapy to improve balance and coordination
* Occupational therapy to assist with daily activities
* Speech therapy to address communication difficulties
* Assistive devices such as canes or walkers to improve mobility
* Medications to manage symptoms such as tremors or spasticity
* Support groups for individuals with cerebellar ataxia and their families

Overall, the key to managing cerebellar ataxia is early diagnosis and aggressive treatment. With proper management, individuals with this condition can lead active and fulfilling lives despite the challenges they face.

There are several types of color vision defects, including:

1. Color blindness: This is a common condition where individuals have difficulty distinguishing between certain colors, such as red and green. It is usually inherited and affects males more frequently than females.
2. Achromatopsia: This is a rare condition where individuals have difficulty seeing any colors and only see shades of gray.
3. Tritanopia: This is a rare condition where individuals have difficulty seeing the color blue and only see yellow and red.
4. Deuteranomaly: This is a common condition where individuals have difficulty seeing red and green colors and see these colors as more yellow or orange.
5. Anomalous trichromacy: This is a rare condition where individuals have an extra type of cone in their retina, which can cause unusual color perception.

Color vision defects can be diagnosed with a series of tests, including the Ishihara test, the Farnsworth-Munsell 100 Hue Test, and the Lantern Test. Treatment options vary depending on the type and severity of the condition, but may include glasses or contact lenses, color filters, or surgery.

In conclusion, color vision defects can significantly impact daily life, making it important to be aware of these conditions and seek medical attention if symptoms persist or worsen over time. With proper diagnosis and treatment, individuals with color vision defects can lead normal and fulfilling lives.

The exact cause of optic nerve glioma is not known, but it is thought to be related to genetic mutations that occur during fetal development. The tumor typically grows slowly over several years, and may not cause any symptoms in the early stages. As the tumor grows, it can press on the optic nerve and cause vision loss and other symptoms.

There are several types of optic nerve glioma, including:

1. Pilocytic astrocytoma: This is the most common type of optic nerve glioma and typically affects children. It is a slow-growing tumor that usually develops in the optic nerve near the point where it connects to the brain.
2. Fibrillary astrocytoma: This type of optic nerve glioma is less common and tends to grow more quickly than pilocytic astrocytoma. It can occur in both children and adults.
3. Anaplastic astrocytoma: This is the least common and most aggressive type of optic nerve glioma. It typically affects adults and grows rapidly, causing significant vision loss and other symptoms.

The diagnosis of optic nerve glioma is based on a combination of imaging studies such as MRI and CT scans, and tissue biopsy. Treatment options for optic nerve glioma depend on the type and location of the tumor, as well as the patient's age and overall health. Surgery is often the first line of treatment, followed by radiation therapy and chemotherapy as needed. In some cases, clinical trials may also be an option.

Prognosis for optic nerve glioma varies depending on the type and location of the tumor, as well as the patient's age and overall health. In general, the prognosis is better for pilocytic astrocytoma than for fibrillary or anaplastic astrocytoma. However, even with treatment, vision loss can occur in many cases.

In summary, optic nerve glioma is a rare and complex condition that requires careful evaluation and management by a multidisciplinary team of medical professionals. While the prognosis varies depending on the type and location of the tumor, early diagnosis and treatment are critical to improving outcomes for patients with this condition.

The main clinical features of olivopontocerebellar atrophies include:

1. Progressive cerebellar ataxia: a loss of coordination, balance, and gait difficulties.
2. Cognitive decline: problems with memory, language, and other cognitive functions.
3. Eye movements abnormalities: difficulty with eye movements, including nystagmus (involuntary eye movements) and oculomotor disorders.
4. Dysarthria: slurred or distorted speech.
5. Pyramidal signs: symptoms such as rigidity, bradykinesia (slowness of movement), and tremors.

The most common form of olivopontocerebellar atrophy is sporadic cerebellar ataxia, which accounts for about 70% of cases. Other forms include familial cerebellar ataxia, which is inherited in an autosomal dominant or recessive pattern, and acquired cerebellar ataxia, which can be caused by various medical conditions such as stroke, tumors, or infections.

There is currently no cure for olivopontocerebellar atrophy, and treatment is primarily focused on managing the symptoms and slowing down disease progression. Physical therapy, occupational therapy, and speech therapy can help improve motor function, balance, and communication skills. Medications such as antioxidants, cholinesterase inhibitors, and dopaminergic agents may also be used to manage symptoms.

In summary, olivopontocerebellar atrophy is a group of progressive neurodegenerative disorders that affect the cerebellum and brainstem, leading to difficulties with movement, coordination, and balance. While there is currently no cure for these conditions, a range of treatments can help manage symptoms and improve quality of life.

The symptoms of Leigh disease usually become apparent during infancy or early childhood and may include:

* Delayed development
* Loss of motor skills
* Muscle weakness
* Seizures
* Vision loss
* Hearing loss
* Poor feeding and growth

Leigh disease is often diagnosed through a combination of clinical evaluations, laboratory tests, and imaging studies such as MRI or CT scans. There is no cure for Leigh disease, but treatment may include supportive care, such as physical therapy, occupational therapy, and speech therapy, as well as medications to manage seizures and other symptoms. In some cases, a liver transplant may be necessary.

The progression of Leigh disease can vary widely, and the age of onset and rate of progression can vary depending on the specific type of mutation causing the disorder. Some forms of Leigh disease are more severe and progress rapidly, while others may be milder and progress more slowly. In general, however, the disease tends to progress over time, with worsening symptoms and declining function.

Leigh disease is a rare disorder, and there is no specific data on its prevalence. However, it is estimated that mitochondrial disorders, of which Leigh disease is one type, affect approximately 1 in 4,000 people in the United States.

The exact cause of gyrate atrophy is not well understood, but it is thought to be inherited in an autosomal recessive manner. The condition typically presents in childhood or adolescence and can progress rapidly, leading to significant vision loss over a short period of time.

Symptoms of gyrate atrophy may include blurred vision, peripheral vision loss, and sensitivity to light. The condition can be diagnosed through a comprehensive eye exam, including imaging tests such as optical coherence tomography (OCT) and fundus autofluorescence (FAF).

There is currently no cure for gyrate atrophy, but various treatments may be used to slow the progression of the condition and manage its symptoms. These may include vitamin supplements, anti-inflammatory medications, and protective eyewear to reduce exposure to bright light. In severe cases, surgical intervention such as retinal implantation or vision restoration therapy may be considered.

Early detection and ongoing monitoring are essential for managing gyrate atrophy and preserving vision as much as possible. With appropriate treatment and support, individuals with this condition can lead active and fulfilling lives despite significant vision loss.

There are several types of deafness, including:

1. Conductive hearing loss: This type of deafness is caused by problems with the middle ear, including the eardrum or the bones of the middle ear. It can be treated with hearing aids or surgery.
2. Sensorineural hearing loss: This type of deafness is caused by damage to the inner ear or auditory nerve. It is typically permanent and cannot be treated with medication or surgery.
3. Mixed hearing loss: This type of deafness is a combination of conductive and sensorineural hearing loss.
4. Auditory processing disorder (APD): This is a condition in which the brain has difficulty processing sounds, even though the ears are functioning normally.
5. Tinnitus: This is a condition characterized by ringing or other sounds in the ears when there is no external source of sound. It can be a symptom of deafness or a separate condition.

There are several ways to diagnose deafness, including:

1. Hearing tests: These can be done in a doctor's office or at a hearing aid center. They involve listening to sounds through headphones and responding to them.
2. Imaging tests: These can include X-rays, CT scans, or MRI scans to look for any physical abnormalities in the ear or brain.
3. Auditory brainstem response (ABR) testing: This is a test that measures the electrical activity of the brain in response to sound. It can be used to diagnose hearing loss in infants and young children.
4. Otoacoustic emissions (OAE) testing: This is a test that measures the sounds produced by the inner ear in response to sound. It can be used to diagnose hearing loss in infants and young children.

There are several ways to treat deafness, including:

1. Hearing aids: These are devices that amplify sound and can be worn in or behind the ear. They can help improve hearing for people with mild to severe hearing loss.
2. Cochlear implants: These are devices that are implanted in the inner ear and can bypass damaged hair cells to directly stimulate the auditory nerve. They can help restore hearing for people with severe to profound hearing loss.
3. Speech therapy: This can help people with hearing loss improve their communication skills, such as speaking and listening.
4. Assistive technology: This can include devices such as captioned phones, alerting systems, and assistive listening devices that can help people with hearing loss communicate more effectively.
5. Medications: There are several medications available that can help treat deafness, such as antibiotics for bacterial infections or steroids to reduce inflammation.
6. Surgery: In some cases, surgery may be necessary to treat deafness, such as when there is a blockage in the ear or when a tumor is present.
7. Stem cell therapy: This is a relatively new area of research that involves using stem cells to repair damaged hair cells in the inner ear. It has shown promising results in some studies.
8. Gene therapy: This involves using genes to repair or replace damaged or missing genes that can cause deafness. It is still an experimental area of research, but it has shown promise in some studies.
9. Implantable devices: These are devices that are implanted in the inner ear and can help restore hearing by bypassing damaged hair cells. Examples include cochlear implants and auditory brainstem implants.
10. Binaural hearing: This involves using a combination of hearing aids and technology to improve hearing in both ears, which can help improve speech recognition and reduce the risk of falls.

It's important to note that the best treatment for deafness will depend on the underlying cause of the condition, as well as the individual's age, overall health, and personal preferences. It's important to work with a healthcare professional to determine the best course of treatment.

Examples of retinal diseases include:

1. Age-related macular degeneration (AMD): a leading cause of vision loss in people over the age of 50, AMD affects the macula, the part of the retina responsible for central vision.
2. Diabetic retinopathy (DR): a complication of diabetes that damages blood vessels in the retina and can cause blindness.
3. Retinal detachment: a condition where the retina becomes separated from the underlying tissue, causing vision loss.
4. Macular edema: swelling of the macula that can cause vision loss.
5. Retinal vein occlusion (RVO): a blockage of the small veins in the retina that can cause vision loss.
6. Retinitis pigmentosa (RP): a group of inherited disorders that affect the retina and can cause progressive vision loss.
7. Leber congenital amaurosis (LCA): an inherited disorder that causes blindness or severe visual impairment at birth or in early childhood.
8. Stargardt disease: a rare inherited disorder that affects the retina and can cause progressive vision loss, usually starting in childhood.
9. Juvenile macular degeneration: a rare inherited disorder that causes vision loss in young adults.
10. Retinal dystrophy: a group of inherited disorders that affect the retina and can cause progressive vision loss.

Retinal diseases can be diagnosed with a comprehensive eye exam, which includes a visual acuity test, dilated eye exam, and imaging tests such as optical coherence tomography (OCT) or fluorescein angiography. Treatment options vary depending on the specific disease and can include medication, laser surgery, or vitrectomy.

It's important to note that many retinal diseases can be inherited, so if you have a family history of eye problems, it's important to discuss your risk factors with your eye doctor. Early detection and treatment can help preserve vision and improve quality of life for those affected by these diseases.

This type of hearing loss cannot be treated with medication or surgery, and it is usually permanent. However, there are various assistive devices and technology available to help individuals with sensorineural hearing loss communicate more effectively, such as hearing aids, cochlear implants, and FM systems.

There are several causes of sensorineural hearing loss, including:

1. Exposure to loud noises: Prolonged exposure to loud noises can damage the hair cells in the inner ear and cause permanent hearing loss.
2. Age: Sensorineural hearing loss is a common condition that affects many people as they age. It is estimated that one-third of people between the ages of 65 and 74 have some degree of hearing loss, and nearly half of those over the age of 75 have significant hearing loss.
3. Genetics: Some cases of sensorineural hearing loss are inherited and run in families.
4. Viral infections: Certain viral infections, such as meningitis or encephalitis, can damage the inner ear and cause permanent hearing loss.
5. Trauma to the head or ear: A head injury or a traumatic injury to the ear can cause sensorineural hearing loss.
6. Tumors: Certain types of tumors, such as acoustic neuroma, can cause sensorineural hearing loss by affecting the auditory nerve.
7. Ototoxicity: Certain medications, such as certain antibiotics, chemotherapy drugs, and aspirin at high doses, can be harmful to the inner ear and cause permanent hearing loss.

It is important to note that sensorineural hearing loss cannot be cured, but there are many resources available to help individuals with this condition communicate more effectively and improve their quality of life.

Some common examples of neurodegenerative diseases include:

1. Alzheimer's disease: A progressive loss of cognitive function, memory, and thinking skills that is the most common form of dementia.
2. Parkinson's disease: A disorder that affects movement, balance, and coordination, causing tremors, rigidity, and difficulty with walking.
3. Huntington's disease: An inherited condition that causes progressive loss of cognitive, motor, and psychiatric functions.
4. Amyotrophic lateral sclerosis (ALS): A disease that affects the nerve cells responsible for controlling voluntary muscle movement, leading to muscle weakness, paralysis, and eventually death.
5. Prion diseases: A group of rare and fatal disorders caused by misfolded proteins in the brain, leading to neurodegeneration and death.
6. Creutzfeldt-Jakob disease: A rare, degenerative, and fatal brain disorder caused by an abnormal form of a protein called a prion.
7. Frontotemporal dementia: A group of diseases that affect the front and temporal lobes of the brain, leading to changes in personality, behavior, and language.

Neurodegenerative diseases can be caused by a variety of factors, including genetics, age, lifestyle, and environmental factors. They are typically diagnosed through a combination of medical history, physical examination, laboratory tests, and imaging studies. Treatment options for neurodegenerative diseases vary depending on the specific condition and its underlying causes, but may include medications, therapy, and lifestyle changes.

Preventing or slowing the progression of neurodegenerative diseases is a major focus of current research, with various potential therapeutic strategies being explored, such as:

1. Stem cell therapies: Using stem cells to replace damaged neurons and restore brain function.
2. Gene therapies: Replacing or editing genes that are linked to neurodegenerative diseases.
3. Small molecule therapies: Developing small molecules that can slow or prevent the progression of neurodegenerative diseases.
4. Immunotherapies: Harnessing the immune system to combat neurodegenerative diseases.
5. Lifestyle interventions: Promoting healthy lifestyle choices, such as regular exercise and a balanced diet, to reduce the risk of developing neurodegenerative diseases.

In conclusion, neurodegenerative diseases are a complex and diverse group of disorders that can have a profound impact on individuals and society. While there is currently no cure for these conditions, research is providing new insights into their causes and potential treatments. By continuing to invest in research and developing innovative therapeutic strategies, we can work towards improving the lives of those affected by neurodegenerative diseases and ultimately finding a cure.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

The term "geographic" refers to the characteristic map-like pattern of atrophy that occurs in the retina, with areas of degeneration resembling geographical features such as rivers, lakes, and islands. The progression of GA is typically slower than that of neovascular AMD, but it can still lead to significant vision loss over time.

The exact cause of GA is not fully understood, but it is believed to be related to the aging process and the accumulation of waste material in the retina. Risk factors for developing GA include age, family history, and prior history of AMD. There is currently no cure for GA, but various treatments are being developed to slow its progression and manage symptoms. These may include vitamin supplements, anti-inflammatory medications, and photodynamic therapy. Regular eye exams are important for early detection and monitoring of GA to help preserve vision and quality of life.

1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.

2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.

3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.

4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.

5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.

6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.

7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.

8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.

9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.

10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics 94: 303-309 Chen CA, Bosch ... Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, ... NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-309. (Articles ... "OMIM Entry - # 615722 - Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Retrieved 19 January 2020. Bosch DGM, ...
"Optic Atrophy: Causes, Symptoms, Diagnosis & Outcome". Cleveland Clinic. Retrieved 2022-10-07. Ahmad SS, Kanukollu V (2022). " ... All individuals had progressive hearing loss starting in childhood and optic atrophy with onset in either childhood or middle ... Visual/ocular features included optic atrophy which resulted in progressively lower visual acuity among those with the ... May 2006). "Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a ...
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 ...
Occasional findings include optic nerve atrophy. This condition has many complications associated with it One of the most ... localized areas of chorioretinal atrophy alongside pigmentation resembling retinitis pigmentosa, etc. J E MacVicar et al. ...
development of optic neuritis and atrophy. atrial fibrillation, cerebral infarction, acute myocardial infarction, Fisher's ...
Associated problems can include optic nerve atrophy. As movement difficulties worsen, it can cause difficulty swallowing ( ...
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. ...
Optic atrophy typically develops later and may appear mild. In later stages the optic atrophy can become severe, which ... optic nerve, optic chiasm, and optic tract. These disturbances are multifactorial, their aetiology consisting of metabolic and/ ... Toxic optic neuropathy refers to the ingestion of a toxin or an adverse drug reaction that results in vision loss from optic ... Optic nerve damage in most inherited optic neuropathies is permanent and progressive. LHON, as the name suggests, is an ...
... 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 ...
An example of this phenomenon is Leber optic atrophy. Generally, individuals with this condition do not experience vision ...
ISBN 978-0-07-135455-4. Hartwell EA, Robinson LK, Robinson LH, Aceves J (February 1988). "Congenital optic atrophy and ... congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found. Heart-hand ... Syndromes affecting the optic nerve, All stub articles, Disease stubs, Human reproduction stubs). ...
Amaurosis Dominant optic atrophy Glaucoma Ischemic optic neuropathy Optic atrophy Toxic and nutritional optic neuropathy ... 17:249-291 Erickson RP (May 1972). "Leber's optic atrophy, a possible example of maternal inheritance". American Journal of ... LEBER OPTIC ATROPHY - 535000 Hoegger MJ, Lieven CJ, Levin LA (2008). "Differential production of superoxide by neuronal ... This typically evolves to very severe optic atrophy and a permanent decrease of visual acuity. Both eyes become affected either ...
"Glaucoma causes Optic Nerve Cupping (atrophy) and Vision Loss". The Eye Digest. The University of Illinois Eye and Ear ... The optic cup is the white, cup-like area in the center of the optic disc. The ratio of the size of the optic cup to the optic ... The optic disc is the anatomical location of the eye's "blind spot", the area where the optic nerve leave and blood vessels ... 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 ...
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 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- ...
... some of them include vision impairment/blindness due to optic atrophy characteristic of the disorder, deafness due to atrophy ... "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome". www.ebi.ac.uk. Archived from the ... "Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss". Archived from the original on 2022-05-13 ... "Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss - About the Disease - Genetic and Rare ...
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 ...
2019). "Brain Atrophy in Relapsing Optic Neuritis Is Associated With Crion Phenotype". Frontiers in Neurology. 10: 1157. doi: ... These patients have MS-like brain lesions, multifocal spine lesions and retinal and optic nerves atrophy. See Anti-neurofascin ... Asian optic-spinal MS - this variant can present brain lesions like MS. Longitudinally extensive myelitis or optic neuritis ... Some cases of McDonalds-positive multiple sclerosis isolated optic neuritis or transverse myelitis Recurrent optic neuritis. ...
... monesi probably had a constricted optic canal, which contains the optic nerve and ophthalmic artery, corresponding to vision. ... The atrophy of the socket was probably a compensatory response to the missing tooth, sharply reducing jaw height towards the ...
Brain changes such as cerebral atrophy may occur. This atrophy is associated with areas of high glucocorticoid receptor ... which may compress the optic chiasm, causing typical bitemporal hemianopia.[citation needed] When any of these tests is ... In exogenous Cushing's, the adrenal glands may often gradually atrophy due to lack of stimulation by ACTH, the production of ...
... deficiency Ceramide trihexosidosis Ceraunophobia Cerebellar agenesis Cerebellar ataxia areflexia pes cavus optic atrophy ... Coloboma of lens ala nasi Coloboma of macula type B brachydactyly Coloboma of macula Coloboma of optic nerve Coloboma of optic ... recessive Charcot-Marie-Tooth peroneal muscular atrophy, X-linked CHARGE syndrome Charles' disease Charlie M syndrome Chavany- ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ...
Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting ...
V. Hypertensive optic neuropathy". Ophthalmology. 93 (1): 74-87. doi:10.1016/s0161-6420(86)33773-4. PMID 3951818./ Kawana T, ... Motor symptoms include loss of function ("negative") symptoms of weakness, tiredness, muscle atrophy, and gait abnormalities; ... such as multiple system atrophy, and therefore, may cause similar symptoms to autonomic neuropathy.[citation needed] The signs ... Brachial neuritis Cranial neuritis such as Bell's palsy Optic neuritis Vestibular neuritis Wartenberg's migratory sensory ...
Optic disc drusen - globules progressively calcify in the optic disc, compressing the vascularization and optic nerve fibers ( ... Gyrate atrophy, choroid Excludes: ornithinaemia ( E72.4 ) (H31.3) Choroidal haemorrhage and rupture Choroidal haemorrhage: NOS ... Dysthyroid exophthalmos it is shown that if your eye comes out that it will shrink because the optic fluids drain out (H10.0) ... a disconnection between the optic nerve and the brain and/or spinal cord (H57.9) Red eye - conjunctiva appears red typically ...
Morrison JC (2006). "Integrins in the optic nerve head: potential roles in glaucomatous optic neuropathy (an American ... Occasionally, failure of the normal third-trimester gestational atrophy of the hyaloid canal and the tunica vasculosa lentis is ... Often, the optic nerve shows an abnormal amount of cupping. If treated early, it is possible to slow or stop the progression of ... Conversely, optic nerve damage may occur with normal pressure, known as normal-tension glaucoma. The mechanism of open-angle ...
... and optic atrophy. Pathogenic mutations have included R45C, R56X, T50A, R73C, P99L, R155P, V353M, G129R, R183C, F368I, and ...
... optic atrophy, and generalised spasticity. Unlike the infantile form, there is no macrocephaly exhibited. Although the ...
... including the retina and optic nerve. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the ... pruritus and common secondary bacterial infections Skin atrophy - loss of elasticity, the skin resembles tissue paper, 'lizard ...
... optic atrophy). Affected individuals can develop an increased sensitivity to light (photophobia) or other vision problems ... Neuroimaging is employed to verify the presence of cerebral atrophy. In cases of suspected CGS; testing for XLA is possible. ... GeneReviews/NCBI/NIH/UW entry on Deafness-Dystonia-Optic Neuronopathy Syndrome MTS - a page at NIH website (CS1 maint: url- ...
Their main features were psychomotor retardation, cerebral and cerebellar atrophy and fluctuating hormone levels (e.g.prolactin ... optic disc pallor, and reduced rod function on electroretinography.Three subtypes PMM2-CDG, PMI-CDG, ALG6-CDG can cause ...
Optic atrophy and cranial nerve damage secondary to bony expansion can result in marked morbidity. The prognosis is extremely ...
... dominant optic atrophy, amblyopia, or nonorganic visual disorder. The combination of weak amplitudes in the mfERG with no ... Use of adaptive optics to obtain high-resolution retinal images reveal abnormal changes in patients with OMD, including ... A visual field test can differentiate between whether the reduced visual acuity is centered on the optic nerve or the fundus. ... Weiss, Jeffrey (2014). "4". Patient's Guide to Retinal and Optic Nerve Stem Cell Surgery. Author. ISBN 978-1495336997. "Occult ...
An example of this type of disorder is Leber's hereditary optic neuropathy. It is important to stress that the vast majority of ... spinal muscular atrophy, and Roberts syndrome. Certain other phenotypes, such as wet versus dry earwax, are also determined in ...
Hypsarrhythmia and Optic atrophy RAPADILINO syndrome Retinoschisis 1, X-linked, juvenile Sialuria, Finnish type (Salla disease ... GRACILE syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia ( ...
... and optic atrophy. Symptoms of Eales disease include: mild reduction in vision due to vitreous hemorrhages, headaches, ...
CPA has been associated rarely with retinal vascular disorder, retinal vein thrombosis, and optic neuritis. A case report of ... testicular atrophy, and reversible infertility. CPA has been described as causing "severe" suppression of sex drive and ... 60-. ISBN 978-1-4939-2456-1. Ní Mhéalóid Á, Cunniffe G (August 2017). "Optic neuritis secondary to antiandrogen therapy". Ir J ... Keilani C, Abada S (May 2017). "An uncommon case of symptomatic multiple meningiomas with bilateral compressive optic ...
More complex processes can also be studied in vitro and formation of organoids, including cerebroids, optic cup and kidney have ... For example, motoneurons are used to study spinal muscular atrophy (SMA) and cardiomyocytes are used to study arrythmia. This ... Spinal muscular atrophy (SMA), muscular dystrophies, cystic fibrosis, Long QT syndrome, and Type I diabetes. The potentially ...
Votruba M, Payne A, Moore AT, Bhattacharya SS (1998). "Dominant optic atrophy: exclusion and fine genetic mapping of the ...
Optic atrophy and Sensorineural hearing loss (CAPOS/CAOS syndrome) Very early-onset schizophrenia Rapid onset dystonia- ...
Advances were made in analytical chemistry and physics instrumentation including improved sensors, optics, tracers, ... occurrence of blind animals in caves and in the deep sea was a fact that even Darwin regarded as best explained by the atrophy ...
"Perinatal Chikungunya Virus-Associated Encephalitis Leading to Postnatal-Onset Microcephaly and Optic Atrophy". The Pediatric ...
... keeping the eye essentially light tight except on the eye's optic axis. In order, along the optic axis, the optical components ... Aging causes laxity, downward shift of eyelid tissues and atrophy of the orbital fat. These changes contribute to the etiology ... The retina makes a connection to the brain via the optic nerve. The remaining components of the eye keep it in its required ... Journal of Biomedical Optics. Vol. 19. p. 26. Bibcode:2014JBO....19g9901M. doi:10.1117/1.JBO.19.7.079901. ISBN 978-3-527-64899- ...
Optic atrophy Refractory errors Small, low-set ears that may be rotated somewhat backwards and has a prominent (bulging) pinna ...
CYP2C Optic atrophy 1; 165500; OPA1 Optic atrophy and cataract; 165300; OPA3 Optic atrophy and deafness; 125250; OPA1 Optic ... UBE1 Spinal muscular atrophy-1; 253300; SMN1 Spinal muscular atrophy-2; 253550; SMN1 Spinal muscular atrophy-3; 253400; SMN1 ... atrophy-7; 612989; TMEM126A Optic nerve coloboma with renal disease; 120330; PAX2 Optic nerve hypoplasia and abnormalities of ... PLEKHG5 Spinal muscular atrophy, distal, X-linked 3; 300489; ATP7A Spinal muscular atrophy, late-onset, Finkel type; 182980; ...
The optic chiasm has abnormal uncrossed wiring; many early Siamese were cross-eyed to compensate, but like the kinked tails, ... The most common variety of progressive retinal atrophy (PRA) in cats (among them the Abyssinian, the Somali, and the big group ...
The loss of and damage to the nerves of the optic nerve, causing optic atrophy, can occur. Nystagmus, or involuntary eye ... Cortical atrophy is less severe in CS Type I. CS Type II is present from birth (congenital) and is much more severe than CS ... Additionally, atrophy of the central area of the cerebellum found in patients with Cockayne syndrome could also result in the ... as the disease frequently causes brain atrophy, cataracts, loss of fat in the face, and osteoporosis. COFS syndrome can be ...
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 ...
The author investigated the transections of optic nerves obtained during the post-mortem examination of cadavers with ... Modern approaches to the treatment of the optic nerve atrophy. 2nd International Conference and Exhibition on Neurology & ... 480 patients ranging from 1 year to 45 years old with optic nerve atrophy have been treated with the help of this method. ... The results of the experiment showed that the optic nerve atrophy was not complete. These findings encouraged the author to ...
Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. ... Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. In ... Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. / ... Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. ...
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Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome) in Iraqi Jews. Anikster Y ... optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in ... optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in ... Optic atrophy is the earliest sign in Behr syndrome and may be evident in early childhood. Nystagmus is a variable feature. ...
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous ... hypertrophic cardiomyopathy and optic atrophy.Methods We describe a comprehensive clinical, biochemical and molecular genetic ... generalised neuromuscular weakness and optic atrophy. The disease progression was ultimately fatal with severe encephalopathy ...
Patient shares his experience after stem cell therapy for Optic atrophy. *Home ...
... was associated with visual loss in another mitochondrial optic neuropathy, Leber hereditary optic neuropathy (LHON). Combined ... and impaired response to energetic stress in the pathogenesis of mitochondrial optic neuropathies, potentially linked with ... To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a ... OBJECTIVE: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of ...
Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome (Online Mendelian Inheritance in Man [OMIM] ID 230740 ... A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome.. ...
... autosomal dominant optic atrophy; neuronal maturation; neurodegeneration. ...
Charles Bonnet Syndrome in an elderly blind man with recurrent Pituitary Macroadenoma and optic atrophy: a case report and the ...
... due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. ... including optic nerve atrophy, cortical atrophy, cerebellar atrophy, hypotonia, seizures and intellectual disabilities. In the ... in ACO2 in a family with autosomal dominant inherited isolated optic atrophy. A complementation assay using aco1-deficient ... due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. ...
Optic nerve hypoplasia or atrophy. Other ocular findings that have been reported in infants with congenital Zika virus ... optic nerve hypoplasia or atrophy, other retinal lesions, iris colobomas, congenital glaucoma, microphthalmia, lens subluxation ... Congenital Zika virus infection has also been associated with other abnormalities, including but not limited to brain atrophy ... Reported eye abnormalities include, but are not limited to, focal pigmentary mottling and chorioretinal atrophy in the macula, ...
Optic Atrophy. *Papilledema. View all 5 Specialties + Insurance Insurance. Is Cleveland Clinic Part of Your Insurance?. Review ... He answered my questions and reassured me the swelling was not back on my optic nerves. He was nice and pleasant and did a ...
optic atrophy). Severe breathing problems are common, and these problems can worsen until they cause acute respiratory failure ...
Optic atrophy-4. hide. dense. squish. pack. full. Oralfacial cleft-11. hide. dense. squish. pack. full. Dyslexia-2. hide. dense ...
... and compression of the optic chiasm and third ventricle. Presence of nodular areas with marked enhancement of basal cisterns is ...
Optic nerve atrophy. Optic nerve atrophy is damage to the optic nerve. The optic nerve carries images of what the eye sees to ... Optic nerve atrophy. Optic nerve atrophy is damage to the optic nerve. The optic nerve carries images of what the eye sees to ... Optic neuritis. The optic nerve carries images of what the eye sees to the brain. When this nerve become swollen or inflamed, ... Optic neuritis. The optic nerve carries images of what the eye sees to the brain. When this nerve become swollen or inflamed, ...
77 61 00 Atrophy, optic (nerve) NOS (temporal) 77 61 40 Atrophy, optic (nerve), traumatic 77 61 41 Atrophy, optic (nerve), due ... 77 62 00 Atrophy, optic (nerve), primary NOS 77 62 40 Atrophy, optic (nerve), traumatic, primary 77 62 72 Atrophy, optic (nerve ... optic (nerve), secondary NOS (ischemic) 77 63 40 Atrophy, optic (nerve), traumatic, secondary 77 64 81 Atrophy, optic (nerve), ... optic nerve NOS 77 53 00 Melanocytoma, optic disc (benign) 77 53 00 Tumor, optic nerve, benign 77 56 00 Tumor, optic nerve, ...
Visual impairment secondary to atrophy of the optic nerve has been reported. Chronic exposure may be more serious for children ...
Kaylee has optic nerve atrophy. Her mom read about a glasses called eSight, a high-tech pair of glasses that "houses... read ...
... primarily chorioretinal scars or abnormal macular pigmentation and papillary/optic nerve atrophy. Several case series reported ... posterior pole anomalies such as chorioretinal atrophy, optic nerve abnormalities, focal retinal pigment mottling) ... One of these infants had cortical atrophy seen with head ultrasonography, scarring of the macula, strabismus, central hypotonia ... These infants had cerebral anomalies, microcephaly, hypertonia, multiple joint contractures (n = 2), and optic nerve hypoplasia ...
... optic atrophy, and sensorineural hearing loss) (Demos et al., 2014). Moreover, α3 dysfunction has recently been linked to ALS ( ...
Optic atrophy. Previous. Next: Warnings. Contraindications. Hypersensitivity. Caution. Proteinuria and renal toxicity reported ...
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM ... Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. Scolding, N.J., Kellar-Wood, H.F., Shaw, C., ... Other neurological features subsequently emerged, and "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and ... The Wolfram syndrome (MIM 222300) is a disease of unknown origin consisting of diabetes insipidus, diabetes mellitus, optic ...
Visual disturbances such as double vision, atrophy of one optic nerve. *impaired ocular movement ... This test helps detect whether there is a lesion to a nerve in the optic nerve, brainstem and spinal cord even though a person ...
  • There is no doubt that some familial cases with likely autosomal recessive inheritance lacked (or were not tested for) urinary metabolites considered diagnostic for an optic atrophy disorder with 3-methylglutaconate aciduria ( 258501 ) and labeled methylglutaconic aciduria type III (and sometimes Costeff optic atrophy syndrome). (arizona.edu)
  • This disorder is allelic to an autosomal dominant disorder called Optic Atrophy 3 and Cataracts ( 165300 ) but the uniqueness of the latter entity is uncertain. (arizona.edu)
  • Growth retardation- alopecia -pseudoanodontia- optic atrophy (GAPO) syndrome ( Online Mendelian Inheritance in Man [ OMIM ] ID 230740) is one of the rarest autosomal recessive syndromes . (bvsalud.org)
  • In the present study, we identified a heterozygous 51 bp deletion (c.1699_1749del51) in ACO2 in a family with autosomal dominant inherited isolated optic atrophy. (cegat.com)
  • The results of the experiment showed that the optic nerve atrophy was not complete. (iomcworld.org)
  • These findings encouraged the author to investigate the possibility of regeneration of the optic nerve with the help of a helium-neon laser with the output power of 1 mW directed at the optic nerve discs and the transcranial method of application of a helium-neon laser with the output power of 3-5 mW directed at the end lobe of the brain. (iomcworld.org)
  • 480 patients ranging from 1 year to 45 years old with optic nerve atrophy have been treated with the help of this method. (iomcworld.org)
  • The holographic effect appears when the laser irradiation interacts with the molecular structures of the optic nerve, which is viewed as J. J. Hopfield?s neuron network (1982). (iomcworld.org)
  • Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. (cegat.com)
  • Mutations in the ACO2 gene were identified in patients suffering from a broad range of symptoms, including optic nerve atrophy, cortical atrophy, cerebellar atrophy, hypotonia, seizures and intellectual disabilities. (cegat.com)
  • Our study reveals that a monoallelic mutation in ACO2 is sufficient to promote mitochondrial dysfunction and increased vulnerability to oxidative stress as main drivers of cell death related to optic nerve atrophy. (cegat.com)
  • Kaylee has optic nerve atrophy. (bostonharborangels.com)
  • 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)
  • Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. (ox.ac.uk)
  • OBJECTIVE: 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. (ox.ac.uk)
  • 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)
  • Atrophy causes these nerves to have an abnormally pale appearance (pallor), which can be seen during an eye examination. (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 author investigated the transections of optic nerves obtained during the post-mortem examination of cadavers with ophthalmectomy, which had been performed five years previously. (iomcworld.org)
  • The CNS is made up of the brain, spinal cord and optic nerves. (physio-pedia.com)
  • Optic disc OCT with peripapillary RNFL measurements and OCTA examination with the evaluation of the macula and optic disc were performed for all participants using Zeiss Cirrus 5000. (bvsalud.org)
  • When the OCTA results of the macula and optic disc were evaluated, there were no statistical differences between early NTG and HTG. (bvsalud.org)
  • The nosology of infantile optic atrophy is unclear. (arizona.edu)
  • But it is also possible that another form of infantile optic atrophy without aminoaciduria also exists. (arizona.edu)
  • The genetic basis for simple Behr infantile optic atrophy is unclear and it is likely that multiple unique entities exist. (arizona.edu)
  • Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes.Objective To identify the causative genetic defect in two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy.Methods We describe a comprehensive clinical, biochemical and molecular genetic investigation of two affected siblings from a consanguineous family. (ncl.ac.uk)
  • Congenital Zika virus infection has also been associated with other abnormalities, including but not limited to brain atrophy and asymmetry, abnormally formed or absent brain structures, hydrocephalus, and neuronal migration disorders. (cdc.gov)
  • Optic atrophy is the earliest sign in Behr syndrome and may be evident in early childhood. (arizona.edu)
  • A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome. (bvsalud.org)
  • We previously found that increased mitophagy (mitochondrial recycling) was associated with visual loss in another mitochondrial optic neuropathy, Leber hereditary optic neuropathy (LHON). (ox.ac.uk)
  • 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. (ox.ac.uk)
  • 14 patients ont été pris en charge par les ophtalmologistes. (who.int)
  • Le protocole utilisé dans le traitement du myélome multiple a été le VMCD-REV à 76,92% avec pour réponse thérapeutique complète chez 6 patients, 3 réponses partielles et 4 en cours de traitement. (bvsalud.org)
  • People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). (medlineplus.gov)
  • Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. (medlineplus.gov)
  • Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1. (medlineplus.gov)
  • Early onset (early childhood) optic atrophy, with later (second decade) spasticity, ataxia, extrapyramidal signs and cognitive defects to some degree are common to both. (arizona.edu)
  • Mitochondrial cristae morphology was assessed with transmission electron microscopy.Results Both affected sisters presented with a similar cluster of neurodevelopmental deficits marked by failure to thrive, generalised neuromuscular weakness and optic atrophy. (ncl.ac.uk)
  • Bissell AJ, Yalcinbayir O, Akduman L. Bilateral geographic atrophy: spontaneous visual improvement after loss of vision in the fellow eye. (medscape.com)
  • DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. (nih.gov)
  • Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. (nih.gov)
  • 10. [Bilateral progressive optic atrophy and without diabetic retinopathy in a young diabetic patient. (nih.gov)
  • 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 disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain. (nih.gov)
  • Atrophy causes these nerves to have an abnormally pale appearance (pallor), which can be seen during an eye examination. (medlineplus.gov)
  • The ophthalmic examination discloses on fundoscopy isolated optic disc pallor or atrophy, related to the RGC death. (nih.gov)
  • Ophthalmoscopic examination discloses temporal or diffuse pallor of the optic discs, sometimes associated with optic disc excavation. (nih.gov)
  • Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA. (medscape.com)
  • Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. (nih.gov)
  • 6. [Visual impairment in juvenile diabetes mellitus due to optic atrophy: Wolfram's syndrome]. (nih.gov)
  • People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). (medlineplus.gov)
  • Report of a case with optic atrophy. (cdc.gov)