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.
Also Known As:
Dominant Optic Atrophy; Optic Atrophy, Autosomal Dominant; Autosomal Dominant Optic Atrophy Kjer Type; Kjer Type Optic Atrophy; Kjer's Optic Atrophy; Kjer-Type Optic Atrophy; Optic Atrophy 1; Optic Atrophy Type 1; Optic Atrophy, Juvenile; Optic Atrophy, Kjer Type; Atrophies, Juvenile Optic; Atrophies, Kjer-Type Optic; Atrophy, Juvenile Optic; Atrophy, Kjer's Optic; Atrophy, Kjer-Type Optic; Dominant Optic Atrophies; Juvenile Optic Atrophies; Juvenile Optic Atrophy; Kjer Optic Atrophy; Kjer-Type Optic Atrophies; Kjers Optic Atrophy; Optic Atrophies, Dominant; Optic Atrophies, Juvenile; Optic Atrophies, Kjer-Type; Optic Atrophy 1s; Optic Atrophy, Dominant; Optic Atrophy, Kjer's; Optic Atrophy, Kjer-Type; Optic Atrophy, Hereditary, Autosomal Dominant