Table 1 Pathogenic mtDNA mutations associated with Leber hereditary optic neuropathy
MutationGenePrevalence (%)Reference
Primary >95
m.3460G>AMT-ND113220, 221
m.11778G>AMT-ND4697
m.14484T>CMT-ND61432, 222
Rare <5
m.3376G>AMT-ND1 45
m.3697G>A 46
m.3733G>A 223
m.4160T>C 41
m.4171C>A 224
m.11696G>AMT-ND4 40
m.11253T>C 225
m.10663T>CMT-ND4L 226
m.12848C>TMT-ND5 227
m.13730G>A 228
m.14568C>TMT-ND6 229
m.14279G>A 230
m.14459G>A 42–44
m.14482C>G 231
m.14495A>G 232
m.14498C>T 233
m.14568C>T 234
m.14596A>T 40