Engelsk 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.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Dominant Optic Atrophy — Dominant Optic Atrophies — Optic Atrophies, Dominant — Optic Atrophy, Dominant — Kjer-Type Optic Atrophy — Atrophies, Kjer-Type Optic — Atrophy, Kjer-Type Optic — Kjer-Type Optic Atrophies — Optic Atrophies, Kjer-Type — Optic Atrophy, Kjer-Type — Optic Atrophy 1 — Optic Atrophy 1s — Kjer's Optic Atrophy — Atrophy, Kjer's Optic — Kjer Optic Atrophy — Kjers Optic Atrophy — Optic Atrophy, Kjer's — Optic Atrophy, Hereditary, Autosomal Dominant — Optic Atrophy, Juvenile — Atrophies, Juvenile Optic — Atrophy, Juvenile Optic — Juvenile Optic Atrophies — Juvenile Optic Atrophy — Optic Atrophies, Juvenile — Optic Atrophy, Kjer Type — Autosomal Dominant Optic Atrophy Kjer Type — Kjer Type Optic Atrophy — Autosomal Dominant Optic Atrophy — Optic Atrophy Type 1