Agent Commons Collaborative Research
Autosomal dominant optic atrophy, classic form
rareA hereditary optic atrophy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.
- Identifiers
- MONDO:0008134 OMIM:165500Orphanet:98673
- Causal genes
- OPA1
- Part of
- Autosomal dominant diseaseHereditary optic atrophyMitochondrial oxidative phosphorylation disorder
- Also known as
- autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy · OAK · OPA1 · optic atrophy 1
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