Table 1 Mitochondrial mutation, haplogroup and phenotype of OPTN Met98Lys carriers from pedigrees with Leber's hereditary optic neuropathy.
| Pedigree | mtDNA mutation | mtDNA haplogroup | Age at most recent examination (years) | Sex | Manifesting LOV | Age at LOV (years) |
|---|---|---|---|---|---|---|
| Vic2 | 14484T→C (heteroplasmy) | J | 19 | F | Yes | 6 |
| Vic2 | 14484T→C (heteroplasmy) | J | 50 | F | Yes | 14 |
| Vic2 | 14484T→C (Heteroplasmy) | J | 26 | F | Yes | 17 |
| Vic19 | 11778G→A | B | 22 | M | Yes | 24 |
| Qld1 | 11778G→A | T | 41 | M | Yes | 28 |
| Tas1 | 11778G→A | H | 45 | M | No | |
| Tas1 | 11778G→A | H | 47 | F | No | |
| Tas1 | 11778G→A | H | 21 | M | No | |
| Vic5 | 11778G→A | K | 35 | F | No | |
| Vic5 | 11778G→A | K | 62 | F | No | |
| Vic5 | 11778G→A | K | 35 | F | No | |
| Vic6 | 11778G→A | H | 48 | F | No | |
| Vic7 | 11778G→A | I | 24 | M | No | |
| WA3 | 11778G→A | I | 30 | M | No |
F, female; LOV, loss of vision; M, male; mtDNA, mitochondrial DNA.