Autosomal dominant optic atrophy type 3

Genes: 

Sinonimo: 

Autosomal dominant optic atrophy and cataract; OPA3

Tipo de test: 

Tiempo de espera: 

30 dias

Más información

This syndrome is characterised by optic atrophy and cataract that generally appears during childhood. Moderate extrapyramidal signs may also be present. This syndrome has been described in 14 patients and transmission is autosomal dominant. Mutations in the OPA3 gene have been identified.

Fuente: 

Tomado de Orphanet

Prevalencia: 

<1 / 1 000 000

Herencia: 

Autosomal dominant