Ophthalmologic finding in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy

Purpoe To report the ophthalmologic characteritic of a newly identified even-generation pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy coniting of 328 living individual, 111 of whom are maternally related. Deign Obervational population cohort tudy. Method Thi propective tudy of a large Brazilian Leber hereditary optic neuropathy pedigree wa carried out a a field invetigation in Brazil. We decribe the ophthalmologic finding of 192 eye from 96 maternally related individual of thi pedigree. poue were ued a control ubject. We conducted comprehenive neuro-ophthalmologic examination with pychophyical tet, Humphrey viual field, and fundu photograph. We alo correlated the ophthalmologic finding with the previouly publihed epidemiologic aement of rik factor. Reult We examined 76 carrier and 20 affected individual. The affected individual howed evere dieae with a mean viual acuity of 2.04 logarithm of the minimal angle of reolution and without evidence of recovery. All the affected individual howed diffue optic atrophy with a cup-to-dik ratio greater than 0.5 in 55% of cae. Moreover, among Affected individual, moker had a poorer viual acuity (P = .002). Among carrier there were everal ubclinical abnormalitie, including microangiopathy, welling of nerve fiber, and viual field abnormalitie that did not correlate with tobacco or alcohol conumption. Concluion Our reult demontrate a ignificant influence of environmental rik factor, particularly moking, for developing Leber hereditary optic neuropathy and for the everity of it clinical expreion. However, moking did not correlate with the ubclinical abnormalitie detected in carrier. Moreover, ubclinical abnormalitie were equally ditributed between gender.