Mutations in OPA1 have been implicated in various diseases, with the most common being autosomal dominant optic atrophy (ADOA) and dominant optic atrophy plus syndrome (DOA+), the latter of which is characterized by multisystem neurodegeneration including myopathy, ataxia, and dementia. This evidence concerns the gene OPA1 and optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.