Optic Atrophy 1 (OPA1)

Alias:

Optic Atrophy, Autosomal Dominant

Opa1

Optic Atrophy, Kjer Type

Optic Atrophy, Juvenile

Kjer-Type Optic Atrophy

Optic Atrophy Type 1

Oak

Optic Atrophy, Hereditary, Autosomal Dominant

Autosomal Dominant Optic Atrophy Classic Form

Autosomal Dominant Optic Atrophy Kjer Type

Autosomal Dominant Optic Atrophy

Kjer Type Optic Atrophy

Optic Atrophy Kjer Type

Dominant Optic Atrophy

Optic Atrophy Juvenile

Atrophy, Optic, Type 1

Kjer's Optic Atrophy

Adoa

Doa

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Optic Atrophy 1, also known as optic atrophy, autosomal dominant, is related to mitochondrial dna depletion syndrome 14 and autosomal dominant optic atrophy, classic form. An important gene associated with Optic Atrophy 1 is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase). The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are progressive external ophthalmoplegia and proximal muscle weakness

Related ID：

MALACARDS：OPT053

OMIM：165500

MESH：D029241