《英文msh词典》Autosomal Dominant Optic Atrophy
[入口词] Autosomal Dominant Optic Atrophy
[主题词] Optic Atrophy,Autosomal Dominant
[中文释义] 常染色体显性视神经萎缩
[英文释义] 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.