OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).

Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss. For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).