Autosomal Dominant Optic Atrophy (DOA)

Alias:

Autosomal Dominant Optic Atrophy Plus Syndrome

Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome

Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome

Doa+

Adoa

Doa

Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy

Optic Atrophy Autosomal Dominant

Treft Sanborn Carey Syndrome

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Autosomal Dominant Optic Atrophy, also known as optic atrophy-hearing loss-polyneuropathy-myopathy syndrome, is related to optic atrophy 1 and autosomal dominant optic atrophy, classic form, and has symptoms including ataxia and ophthalmoplegia. An important gene associated with Autosomal Dominant Optic Atrophy is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase). The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include eye and bone marrow, and related phenotypes are optic atrophy and progressive visual loss

Related ID：

MALACARDS：ATS540