Table 2 Participants who did not carry the OPTN Met98Lys variant but who were from pedigrees with Leber's hereditary optic neuropathy in which other family members did carry the variant.
Pedigree | mtDNA mutation | mtDNA Haplogroup | n | Mean (SD) age at examination (years) | Male, n (%) | Manifesting LOV, n | Mean (SD) age at LOV (years) |
---|---|---|---|---|---|---|---|
Vic2 | 14484T→C (heteroplasmy) | J | 1 | 49 | 1 (100) | 1 | 17 |
Vic19 | 11778G→A | B | 0 | — | 0 (0) | 0 | — |
Qld1 | 11778G→A | T | 4 | 26.5 (15.70 | 3 (75.0) | 4 | 22.5 (14.9) |
Tas1 | 11778G→A | H | 43 | 43.7 (23.3) | 14 (32.6) | 7 | 25.9 (10.8) |
Vic5 | 11778G→A | K | 3 | 29.7 (3.1) | 2 (66.7) | 1 | 14 |
Vic6 | 11778G→A | H | 1 | 28 | 1 (100) | 0 | — |
Vic7 | 11778G→A | I | 1 | 60 | 0 (0) | 0 | — |
WA3 | 11778G→A | I | 2 | 36.0 (24.0) | 1 (50.0) | 0 | — |
LOV, loss of vision; mtDNA, mitochondrial DNA.