Optic Atrophy, Autosomal Dominant

**Definition:** 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.

**Tree numbers:** - C10.292.700.225.500.100 - C10.574.500.662.100 - C11.270.564.100 - C11.640.451.451.100 - C16.320.290.564.100 - C16.320.400.630.100 - C18.452.660.665

**Synonyms:** - Optic Atrophy, Hereditary, Autosomal Dominant - Optic Atrophy, Juvenile - Optic Atrophy, Kjer Type - Autosomal Dominant Optic Atrophy Kjer Type - Kjer Type Optic Atrophy - Kjer's Optic Atrophy - Autosomal Dominant Optic Atrophy - Dominant Optic Atrophy - Kjer-Type Optic Atrophy - Optic Atrophy Type 1 - Optic Atrophy 1