A cae-control tudy of tobacco and alcohol conumption in leber hereditary optic neuropathy

PURPOE: To determine if tobacco or alcohol conumption i aociated with viion lo among ibhip harboring pathogenic mitochondrial mutation aociated with Leber hereditary optic neuropathy. METHOD: Retropective cae-control tudy with quetionnaire obtained from both affected and unaffected ibling from 80 ibhip with Leber hereditary optic neuropathy. ibhip harbored molecularly confirmed mitochondrial DNA mutation at nucleotide poition 11778 (63), 14484 (10), and 3460 (7). Expoure in affected individual wa calculated baed on reported conumption before viion lo. REULT: For male proband (67 ibhip), the recurrence rik within a ibhip wa 10.3% (eight of 78) for male and 3.1% (three of 98) for female. For female proband (13 ibhip), the recurrence rik within a ibhip wa 17.6% (three of 17) for male and 0% (zero of 22) for female. Greater rik of viion lo wa aociated with male ex (odd ratio [OR] = 6.63; 95% confidence interval [CI] = 2.96 to 14.84; P = .00001) and harboring a 3460 or 14484 in comparion with the 11778 mutation (OR = 2.071; 95% CI = 1.19 to 3.58; P = .0095). No ignificant aociation of maximal intenity of moking or cumulative moking, whether light or heavy, with viion lo wa oberved. Light (OR = 0.31; 95% CI = 0.17 to 0.56; P = .0001) and heavy alcohol conumer (OR = 0.25; 95% CI = 0.11 to 0.58; P = .0011) were le likely to be affected than individual who did not conume alcohol after adjuting for age, ex, and mutation. In a categorical analyi of ibhip with the 3460 or 14484 mutation, no relationhip of viion lo with tobacco or alcohol conumption wa oberved. CONCLUION: Unlike previou tudie, the preent tudy calculated expoure baed on elf-reported conumption of tobacco or alcohol before viion lo. No ignificant deleteriou aociation between tobacco or alcohol conumption and viion lo among individual harboring Leber hereditary optic neuropathy mutation wa oberved. Tobacco and alcohol do not appear to promote viion lo in Leber hereditary optic neuropathy