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Optic Atrophy, Autosomal Dominant
Dominant Optic Atrophy | Optic Atrophy, Hereditary, Autosomal Dominant | Autosomal Dominant Optic Atrophy | Optic Atrophy Type 1 | Optic Atrophy, Kjer Type | Dominant Optic Atrophies | Optic Atrophies, Dominant | Optic Atrophy, 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. |
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