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. 2006 Aug 2;90(11):1420–1424. doi: 10.1136/bjo.2006.099333

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.