Genetic and phenotypic variability of optic neuropathies.

Genetic and phenotypic variability of optic neuropathies. Neuhann T, Rautenstrauss B.; Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19.

Keywords: Hereditary optic neuropathies, heterogeneous disorders, autosomal dominant, autosomal recessive, X-linked recessive, Leber's hereditary optic neuropathy, Kjer's disease, mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich's ataxia, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses, brain iron accumulation.