Optic Atrophy 3, Autosomal Dominant (OPA3)

Optic Atrophy 3, Autosomal Dominant, also known as autosomal dominant optic atrophy and cataract, is related to optic atrophy 6 and optic atrophy 7 with or without auditory neuropathy, and has symptoms including ataxia, muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with Optic Atrophy 3, Autosomal Dominant is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3), and among its related pathways/superpathways are Intracellular trafficking proteins involved in CMT neuropathy and Mitochondrial calcium ion transport. Affiliated tissues include eye and retina, and related phenotypes are visual impairment and optic atrophy