Leber hereditary optic neuropathy (LHON) is a retinal ganglion cell degeneration characterized by bilateral, typically sequential, acute/subacute central visual loss. This maternally inherited condition arises from point mitochondrial DNA (mtDNA) mutations, and more than 90% of affected individuals harbour 1 of 3 primary mtDNA variants, m.11778G>A, m.14484T>C, or m.3460G>A.1 Intriguingly, (i) the majority of subjects harbouring mtDNA mutations do not develop visual symptoms, (ii) a striking number of LHON patients have no family history, and (iii) there is significant male predominance (male:female, ~3:1).
Leber hereditary optic neuropathy (LHON) is a retinal ganglion cell degeneration characterized by bilateral, typically sequential, acute/subacute central visual loss. This maternally inherited condition arises from point mitochondrial DNA (mtDNA) mutations, and more than 90% of affected individuals harbour 1 of 3 primary mtDNA variants, m.11778G>A, m.14484T>C, or m.3460G>A.1 Intriguingly, (i) the majority of subjects harbouring mtDNA mutations do not develop visual symptoms, (ii) a striking number of LHON patients have no family history, and (iii) there is significant male predominance (male:female, ~3:1).