Optic Atrophy: 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.Optic Atrophy, Autosomal Dominant: 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.Optic Atrophies, Hereditary: 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).Atrophy: 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.Optic Nerve: 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.Wolfram Syndrome: 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.Optic Disk: 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.GTP Phosphohydrolases: Enzymes that hydrolyze GTP to GDP. EC 3.6.1.-.Optic Atrophy, Hereditary, Leber: 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))Muscular Atrophy: 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.Optic Neuritis: 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).Hereditary Sensory and Motor Neuropathy: 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)Optic Chiasm: 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.Retinal Ganglion Cells: 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.Papilledema: 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)Pedigree: 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.Optic Nerve Injuries: 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.Muscular Atrophy, Spinal: 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)Vision Disorders: 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).Visual Acuity: 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.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Blindness: 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.Onchocerciasis, Ocular: 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.Eye Diseases: Diseases affecting the eye.Retina: 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.Optic Lobe, Nonmammalian: 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)Optic Neuropathy, Ischemic: 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)Multiple System Atrophy: 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)GlutaratesOptic Flow: The continuous visual field seen by a subject through space and time.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Mitochondrial Diseases: 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.Diabetes Insipidus: 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.Mitochondrial Dynamics: The continuous remodeling of MITOCHONDRIA shape by fission and fusion in response to physiological conditions.Myoclonic Cerebellar Dyssynergia: 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, Low: 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.).Mitochondrial Proteins: Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA.Syndrome: A characteristic symptom complex.Spinal Muscular Atrophies of Childhood: 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)Electroretinography: Recording of electric potentials in the retina after stimulation by light.Optics and Photonics: 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.Mutation: 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.Microcephaly: 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.)Visual Fields: The total area or space visible in a person's peripheral vision with the eye looking straightforward.Nerve Fibers: 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.Cerebellar Ataxia: 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)Color Vision Defects: 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.Mutation, Missense: 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)Optic Nerve Glioma: Glial cell derived tumors arising from the optic nerve, usually presenting in childhood.Fundus Oculi: 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)Evoked Potentials, Visual: The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.Mitochondria: 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)Magnetic Resonance Imaging: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Codon, Nonsense: 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.Optic Nerve Diseases: 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.Olivopontocerebellar Atrophies: 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)Consanguinity: The magnitude of INBREEDING in humans.Genetic Heterogeneity: 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)NADH Dehydrogenase: 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 Disease: 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).Visual Field Tests: Method of measuring and mapping the scope of vision, from central to peripheral of each eye.Gyrate Atrophy: Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.Deafness: A general term for the complete loss of the ability to hear from both ears.Retinal DiseasesGenes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Hearing Loss, Sensorineural: 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.Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Founder Effect: 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.Neurodegenerative Diseases: 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.Intellectual Disability: 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)Geographic Atrophy: 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.Disease Models, Animal: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Membrane Proteins: 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.Abnormalities, Multiple

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Optic nerve atrophy (ONA) is characterized by mild to severe damage to the optic nerve that can adversely affect central vision ... Citation: Arora B, Suriyanarayanan S, Pandey A (2016) Mesenchymal Stem Cells in Optic Nerve Atrophy: A Novel Therapeutic ... Optic nerve disease is complicated and there are a number of pathophysiologic mechanisms that can lead to retinal ganglion cell ... JN Weiss, Levy S, Malkin A (2015) Stem Cell Ophthalmology Treatment Study (SCOTS) for retinal and optic nerve diseases: a ...

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Bertrand can see, but his retina is beginning to cloud, and his optic nerve is beginning to atrophy. His vision is already ... but only a treatment for optic nerve atrophy may be ready during his lifetime. There has been recent progress in reversing ... His nerves are showing signs of atrophy. Eventually, he'll be paralyzed and his senses will deaden. ...

*  Basal blood flow and autoregulation changes in the optic nerve of rhesus monkeys with idiopathic bilateral optic atrophy.

... of idiopathic bilateral optic atrophy (BOA) in rhesus macaque monkeys. In five animals with BOA and nine healthy animals under ... To characterize the hemodynamic features and the association with structural damage in the optic nerve head (ONH) ... Optic Atrophy / pathology, physiopathology*. Optic Disk / blood supply*. Regional Blood Flow*. Tomography, Optical Coherence. ... of idiopathic bilateral optic atrophy (BOA) in rhesus macaque monkeys.. METHODS: In five animals with BOA and nine healthy ...

*  Associations Between β-Peripapillary Atrophy and Reticular Pseudodrusen in Early Age-Related Macular Degeneration | IOVS | ARVO...

Glaucoma is defined as an optic neuropathy associated with characteristic structural damage to the optic nerve and peripheral ... Presence of geographic atrophy was defined as ≥500 μm2 area of RPE loss seen on IR or AF imaging, or if atrophy was documented ... Correlation of peripapillary atrophy and reticular macular disease in patients with primary geographic atrophy resulting from ... or atrophy of the region around the optic nerve.11 ... Optic disc, cup and neuroretinal rim size, configuration and ...

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Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in cells and tissues ... GeneReview: Optic Atrophy Type 1. *. Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault ... Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. This condition is more common in Denmark, where it ... Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with ...

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To report a rare presentation of bilateral optic nerve compression from extra-medullary hematopoiesis in beta thalassemia/Hb E ... 17487139 - Extra-medullary hematopoiesis causing bilateral optic atrophy in beta thalassemia/hb e .... 15876459 - Laryngeal ... Optic Nerve / physiopathology*, radiography. Tomography, X-Ray Computed. beta-Thalassemia / complications*. From MEDLINE®/ ... CLINICAL PRESENTATION: A 13-year-old Thai girl was reported with slowly progressive bilateral visual loss due to optic ...

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... and OPA3 mutations in 980 patients Leber's hereditary optic neuropathy and autosomal dominant optic atrophy. ... Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.. ... Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy ... OPA1 mutations are the most common genetic defects identified in patients with suspected Autosomal-dominant optic atrophy (DOA ...

*  What are some complications of optic nerve atrophy? - Answered by top doctors on HealthTap

Depend on the degree and cause of atrophy, dirrent degree of visual impairment. ... Optic atrophy. The ophthalmic literature shows that vision loss can progress in some individuals with optic atrophy depending ... Optic atrophy. Usually takes 4 to 8 weeks for atrophy to develop after any form of optic nerve injury. ... Optic atrophy. The ophthalmic literature shows that vision loss can progress in some individuals with optic atrophy depending ...

*  Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy...

Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy ... PURPOSE: To investigate retinal trunk vessel diameters in subjects with autosomal dominant optic atrophy (ADOA) and mutation- ... METHODS: This cross-sectional study included 52 ADOA patients with the optic atrophy 1 (OPA1) exon 28 (c.2826_ ... This suggests that narrow vessels are a consequence rather than the cause of inner retinal hypoplasia or atrophy, although ...

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eOPA1: mutations registry of OPA1 gene (Optic atrophy 1) CHU d'Angers. UF de G n tique Mol culaire ...


... optic atrophy ,/li,,/ul,,/ul,,/ul,,/ul,,/ul,,ul,,ul,,ul,,ul,,ul,,li,micropenis ,/li,,/ul,,/ul,,/ul,,/ul,,/ul,,ul,,ul,,ul,,ul,, ... optic atrophy, nerve deafness, cleft palate, renal abnormalities, cryptorchidism, and neurologic abnormalities such as mirror ... Hypopituitarism: Developmental and Genetic causes ,ul,,ul,,ul,,li,Septo-Optic dysplasia ,/li,,/ul,,/ul,,/ul,,ul,,ul,,ul,,li, ... Hypopituitarism: Genetic ,ul,,ul,,li,Septo-Optic dysplasia ,/li,,/ul,,/ul,,ul,,ul,,ul,,ul,,li,Hypothalamic dysfunction and ...

*  Central Retinal Vein Occlusion (CRVO)

Optic atrophy. *Proliferative retinitis. *Loss of the eye. Non-ischemic CRVO results in the formation of a central visual field ... The optic disc shows edema, with hemorrhages in the pre-retinal hemorrhage, as well as cotton wool exudates. This appearance is ... This is by a radial optic neurectomy, but is, again, unlikely to be beneficial because of the formation of a fibrous mass in ... This shows the presence of capillary non-filling and later atrophy in the ischemic type. The finding of cotton wool exudates ...

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Optic Atrophy. *Optic Atrophy, Autosomal Dominant. *Optic Nerve Disorder. *Optic Neuritis. *Optic Neuropathy ...

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Optic Atrophies, Hereditary. Optic Atrophy. Optic Nerve Diseases. Cranial Nerve Diseases. Nervous System Diseases. ... Wolfram syndrome, also referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a genetic ... Genetic or definitive clinical diagnosis of Wolfram's syndrome including: diabetes mellitus, optic atrophy and at least one ...
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*  Neuro-ophthalmology, An Issue of Neurologic Clinics, Volume 28-3 - 1st Edition

... and Optic Atrophy (Golnik). ... Optic Neuritis (Eggenberger); Pupil Disorders (Kawasaki);Giant ... Nonarteritic Anterior Ischemic Optic Neuropathy (Bonelli/Arnold); ...

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23 Bilateral optic atrophy - infantile. 24 Bilateral tetinoblastoma. 25 Bladder cancer - with distant metastases or inoperable ...

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optic atrophy on fundoscopy, or. *abnormal visual evoked potential from either or both eyes suggestive of demyelination ... Optic nerve Magnetisation Transfer Ratio [ Time Frame: 12 and 52 weeks post treatment ] ...

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AND Optic atrophy (1 match). *AND Palpitations (1 match). *AND Pancreas symptoms (1 match) ... 9. Olivopontocerebellar Atrophy. 10. Rett's syndrome. More causes » , All causes ». , Show causes with descriptions ». , Start ...

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spastic quadriplegic cerebral palsy; congenital pes planus; hearing loss, unspecified; optic atrophy; strabismus; other ... Spina bifida with hydrocephalus, cerebral palsy, deep mental delay, congenital deformity of the hip, congenital ptosis, optic ... nerve atrophy, iron and protein deficiency. This tiny girl has spent a lot of time in the hospital. She needs a loving family ...

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AND Optic neuritis (1 match). *AND Optical infection (1 match). *AND Optical inflammation (1 match) ... AND Muscle atrophy (1 match). *AND Muscle symptoms (1 match). *AND Muscle weakness (1 match) ...

Berk–Tabatznik syndrome: Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.Poul Kjer: Paul Kjer, Danish ophthalmologist, studied a condition in nineteen families that was characterized by infantile optic atrophy along with a dominant inheritance mode. In 1959, the condition was named Kjer's optic neuropathy in his honor.Hagemoser–Weinstein–Bresnick syndrome: Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989.Testicular atrophy: Testicular atrophy is a medical condition in which the male reproductive organs (the testes, which in humans are located in the scrotum) diminish in size and may be accompanied by loss of function. This does not refer to temporary changes, such as those brought on by cold.Optic nerve tumor: An optic nerve melanocytoma is a tumor made up of melanocytes and melanin. These tumors are typically a benign; they can grow, but rarely transform into a malignancy.Wolfram syndromeOptic disc: The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. BecauseOptic neuritisHereditary motor and sensory neuropathy: Hereditary motor and sensory neuropathies (HMSN) are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication. HMSN are characterized by non typical neural development, and degradation of neural tissue.Sensory decussation: The sensory decussation or decussation of the lemniscus is a decussation or crossover of axons from the gracile nucleus and cuneate nucleus, which are responsible for fine touch, proprioception and two-point discrimination of the body. The fibres of this decussation are called the internal arcuate fibres and are found at the superior aspect of the closed medulla superior to the motor decussation.PapilledemaPedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Congenital distal spinal muscular atrophy: Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs.Operation Eyesight Universal: Operation Eyesight Universal is a Canada-based international development organisation, founded in 1963. It works to prevent avoidable blindness and to cure blindness that is treatable.LogMAR chart: A LogMAR chart comprises rows of letters and is used by ophthalmologists and vision scientists to estimate visual acuity. This chart was developed at the National Vision Research Institute of Australia in 1976, and is designed to enable a more accurate estimate of acuity as compared to other charts (e.Haplogroup L0 (mtDNA)Blind People's Association: The Blind People’s Association (BPA) is an organisation in India which promotes comprehensive rehabilitation of persons with all categories of disabilities through education, training, employment, community based rehabilitation, integrated education, research, publications, human resource development and other innovative means.Neuro-ophthalmology: Neuro-ophthalmology is an academically-oriented subspecialty that merges the fields of neurology and ophthalmology, often dealing with complex systemic diseases that have manifestations in the visual system. Neuro-ophthalmologists initially complete a residency in either neurology or ophthalmology, then do a fellowship in the complementary field.Retinal regeneration: Retinal regeneration deals with restoring retinal function to vertebrates so impaired.Optic neuropathyGregor Wenning: Gregor K. Wenning (* born 21st March1964 in Horstmar, Westfalia) is a German Neurologist best known for his clinical and scientific work in Parkinson's disease and atypical Parkinsonian disorders, particularly multiple system atrophy (MSA).Reflected-wave switching: Reflected-wave switching is a signalling technique used in backplane computer buses such as PCI.OpsismodysplasiaMitochondrial diseaseDiabetes insipidusMitochondrial fission: Although commonly depicted as bean-like structures mitochondria form a highly dynamic network within most cells where they constantly undergo fission and fusion. Mitochondria can divide by prokaryotic binary fission and since they require mitochondrial DNA for their function, fission is coordinated with DNA replication.Dyssynergia: Dyssynergia is any disturbance of smooth muscular coordination, resulting in uncoordinated and abrupt movements. It is typical for dyssynergic patients to split a movement into several smaller movements.Low vision assessment: Low vision is both a subspeciality and a condition. Optometrists and Ophthalmologists after their training may undergo further training in Low vision assessment and management.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Spinal muscular atrophiesAvo PhotonicsSilent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Microcephaly lymphoedema chorioretinal dysplasia: Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Meridian (perimetry, visual field): Meridian (plural: "meridians") is used in perimetry and in specifying visual fields. According to IPS Perimetry Standards 1978 (2002): "Perimetry is the measurement of [an observer's] visual functions ...Nerve fiber layer: The retinal nerve fiber layer (nerve fiber layer, stratum opticum, RNFL) is formed by the expansion of the fibers of the optic nerve; it is thickest near the porus opticus, gradually diminishing toward the ora serrata.Autosomal recessive cerebellar ataxia: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood.Gene therapy for color blindness: Gene therapy for color blindness is an experimental gene therapy aiming to convert congenitally colorblind individuals to trichromats by introducing a photopigment gene that they lack. Though partial color blindness is considered only a mild disability and is controversial whether it is even a disorder, it is a condition that affects many people, particularly males.Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Mitochondrion: The mitochondrion (plural mitochondria) is a double membrane-bound organelle found in most eukaryotic cells. The word mitochondrion comes from the Greek , , i.HyperintensityNonsense mutation: In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. It differs from a missense mutation, which is a point mutation where a single nucleotide is changed to cause substitution of a different amino acid.Parkinson plus syndrome: Parkinson-plus syndromes, also known as disorders of multiple system degeneration, is a group of neurodegenerative diseases featuring the classical features of Parkinson's disease (tremor, rigidity, akinesia/bradykinesia, postural instability) with additional features that distinguish them from simple idiopathic Parkinson's disease. Some consider Alzheimer's disease to be in this group.Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Genetic heterogeneity: Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition.NADH dehydrogenase: NADH dehydrogenase (, cytochrome c reductase, type 1 dehydrogenase, beta-NADH dehydrogenase dinucleotide, diaphorase, dihydrocodehydrogenase I dehydrogenase, dihydronicotinamide adenine dinucleotide dehydrogenase, diphosphopyridine diaphorase, DPNH diaphorase, NADH diaphorase, NADH hydrogenase, NADH oxidoreductase, NADH-menadione oxidoreductase, reduced diphosphopyridine nucleotide diaphorase) is an enzyme with systematic name NADH:acceptor oxidoreductase. This enzyme catalyses the following chemical reactionEvan LeighPlaque-forming unit: In virology, a plaque-forming unit (PFU) is a measure of the number of particles capable of forming plaques per unit volume, such as virus particles. It is a functional measurement rather than a measurement of the absolute quantity of particles: viral particles that are defective or which fail to infect their target cell will not produce a plaque and thus will not be counted.Prelingual deafness: A prelingual deaf individual is someone who was born with a hearing loss, or whose hearing loss occurred before they began to speak. Infants usually start saying their first words around one year.Purtscher's retinopathy: Purtscher's retinopathy is a disease where part of the eye (retina) is damaged. Usually associated with severe head injuries, it may also occur with other types of trauma, such as long bone fractures, or with several non-traumatic systemic diseases.Iridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.Crandall syndrome: Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti, and hypogonadism demonstrated through low levels of luteinising hormone and growth hormone. It is thought to be an autosomal recessive disorder closely related to Björnstad syndrome which presents similarly but without hypogonadism.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Centre for Research in Neurodegenerative DiseasesHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Gross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Membrane protein: Membrane proteins are proteins that interact with biological membranes. They are one of the common types of protein along with soluble globular proteins, fibrous proteins, and disordered proteins.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..

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

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)

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

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)

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

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)

(4/192) 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?

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)

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

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)

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

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)

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

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)

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

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)

autosomal dominant optic a

  • PURPOSE: To investigate retinal trunk vessel diameters in subjects with autosomal dominant optic atrophy (ADOA) and mutation-free healthy relatives. (forskningsdatabasen.dk)
  • Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. (nih.gov)
  • OPA1 mutations are the most common genetic defects identified in patients with suspected Autosomal-dominant optic atrophy (DOA), whereas OPA3 mutations are very rare in isolated optic atrophy cases. (nih.gov)


  • METHODS: This cross-sectional study included 52 ADOA patients with the optic atrophy 1 (OPA1) exon 28 (c.2826_2836delinsGGATGCTCCA) mutation (age 8.6-83.5 years) (best-corrected visual acuity (BCVA) 8-94 Early Treatment Diabetic Retinopathy Study (ETDRS) letters) and 55 mutation-free first-degree healthy relatives (age 8.9-68.7 years, BCVA 80-99). (forskningsdatabasen.dk)
  • Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy. (nih.gov)
  • Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. (nih.gov)
  • Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. (mitodb.com)
  • Histochemical and molecular characterization of skeletal muscle biopsies revealed the presence of cytochrome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients harbouring OPA1 mutations, even in those with isolated optic nerve involvement. (mitodb.com)


  • This suggests that narrow vessels are a consequence rather than the cause of inner retinal hypoplasia or atrophy, although longitudinal studies are needed to confirm this hypothesis. (forskningsdatabasen.dk)
  • Spectral-domain optic coherence tomography was used to measure retinal nerve fiber layer thickness (RNFLT) by peripapillary circular scans. (biomedsearch.com)


  • However, the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurological involvement have not been established. (mitodb.com)


  • OPA3, as an integral mitochondrial outer membane perotein, has a crucial role in mitochondrial fission, and provides a direct link between mitochondrial morphology and optic atrophy. (nih.gov)
  • However, the cytochrome c oxidase-deficient load was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropathy group, implicating a causal role for these secondary mitochondrial DNA defects in disease pathophysiology. (mitodb.com)


  • Basal blood flow and autoregulation changes in the optic nerve of rhesus monkeys with idiopathic bilateral optic atrophy. (biomedsearch.com)
  • PURPOSE: To characterize the hemodynamic features and the association with structural damage in the optic nerve head (ONH) of idiopathic bilateral optic atrophy (BOA) in rhesus macaque monkeys. (biomedsearch.com)


  • Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy. (nih.gov)


  • Individuals with dominant optic atrophy plus phenotypes also had significantly worse visual outcomes, and careful surveillance is therefore mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment. (mitodb.com)


  • I"ve had bare minimal head pressure but he said optic nerves are still swollen. (medicinenet.com)