Optic Atrophy, Autosomal Dominant

Optikusatrofi, autosomal dominant

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