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Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. [3] Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often ...
A slowly progressive optic neuropathy, dominant optic atrophy, usually presents in the first decade of life and is bilaterally symmetrical. Examination of these patients shows loss of visual acuity, temporal pallor of the optic discs, centrocecal scotomas with peripheral sparing, and subtle impairments in color vision.
Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss Behr syndrome has an autosomal recessive pattern of inheritance . Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia , pyramidal signs ...
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The optic disc is where the axons from the retinal ganglion cells collect into the optic nerve. The optic nerve is the bundle of axons that carry the visual signals from the eye to the brain. This optic nerve must penetrate through the wall of the eye, and the hole to accommodate this is usually 20-30% larger than the nerve diameter.
Non-arteritic anterior ischemic optic neuropathy (NAION) is a medical condition characterized by loss of vision caused by damage to the optic nerve as a result of ischemia, or insufficient blood supply. The key symptom of NAION is optic disc swelling, which typically resolves within 2 months, but often leads to optic atrophy. The likelihood of ...
There are several causes of toxic optic neuropathy. [1] Among these are: ingestion of methanol (wood alcohol), ethylene glycol (automotive antifreeze), disulfiram (used to treat chronic alcoholism), halogenated hydroquinolones (amebicidal medications), ethambutol and isoniazid (tuberculosis treatment), and antibiotics such as linezolid and chloramphenicol as well as chloroquine and the related ...
80207 403187 Ensembl ENSG00000125741 ENSMUSG00000052214 UniProt Q9H6K4 Q505D7 RefSeq (mRNA) NM_001017989 NM_025136 NM_207525 RefSeq (protein) NP_001017989 NP_079412 NP_997408 Location (UCSC) Chr 19: 45.53 – 45.6 Mb Chr 7: 18.96 – 18.99 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene. Clinical ...