Table 1 Pathogenic mtDNA mutations associated with Leber hereditary optic neuropathy | Mutation | Gene | Prevalence (%) | Reference |
Primary | | | >95 | |
| m.3460G>A | MT-ND1 | 13 | 220, 221 |
| m.11778G>A | MT-ND4 | 69 | 7 |
| m.14484T>C | MT-ND6 | 14 | 32, 222 |
Rare | | | <5 | |
| m.3376G>A | MT-ND1 | | 45 |
| m.3697G>A | | | 46 |
| m.3733G>A | | | 223 |
| m.4160T>C | | | 41 |
| m.4171C>A | | | 224 |
| m.11696G>A | MT-ND4 | | 40 |
| m.11253T>C | | | 225 |
| m.10663T>C | MT-ND4L | | 226 |
| m.12848C>T | MT-ND5 | | 227 |
| m.13730G>A | | | 228 |
| m.14568C>T | MT-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 |