Kerrison J B, Miller N R, Hsu F, Beaty T H, Maumenee I H, Smith K H, Savino P J, Stone E M, Newman N J
Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA.
Am J Ophthalmol. 2000 Dec;130(6):803-12. doi: 10.1016/s0002-9394(00)00603-6.
To determine if tobacco or alcohol consumption is associated with vision loss among sibships harboring pathogenic mitochondrial mutations associated with Leber hereditary optic neuropathy.
Retrospective case-control study with questionnaires obtained from both affected and unaffected siblings from 80 sibships with Leber hereditary optic neuropathy. Sibships harbored molecularly confirmed mitochondrial DNA mutations at nucleotide positions 11778 (63), 14484 (10), and 3460 (7). Exposure in affected individuals was calculated based on reported consumption before vision loss.
For male probands (67 sibships), the recurrence risk within a sibship was 10.3% (eight of 78) for males and 3.1% (three of 98) for females. For female probands (13 sibships), the recurrence risk within a sibship was 17.6% (three of 17) for males and 0% (zero of 22) for females. Greater risk of vision loss was associated with male sex (odds ratio [OR] = 6.63; 95% confidence interval [CI] = 2.96 to 14.84; P =.00001) and harboring a 3460 or 14484 in comparison with the 11778 mutation (OR = 2.071; 95% CI = 1.19 to 3.58; P =.0095). No significant association of maximal intensity of smoking or cumulative smoking, whether light or heavy, with vision loss was observed. Light (OR = 0. 31; 95% CI = 0.17 to 0.56; P =.0001) and heavy alcohol consumers (OR = 0.25; 95% CI = 0.11 to 0.58; P =.0011) were less likely to be affected than individuals who did not consume alcohol after adjusting for age, sex, and mutation. In a categorical analysis of sibships with the 3460 or 14484 mutation, no relationship of vision loss with tobacco or alcohol consumption was observed.
Unlike previous studies, the present study calculated exposure based on self-reported consumption of tobacco or alcohol before vision loss. No significant deleterious association between tobacco or alcohol consumption and vision loss among individuals harboring Leber hereditary optic neuropathy mutations was observed. Tobacco and alcohol do not appear to promote vision loss in Leber hereditary optic neuropathy.
确定在携带与Leber遗传性视神经病变相关的致病性线粒体突变的同胞兄弟姐妹中，烟草或酒精消费是否与视力丧失有关。
对80个患有Leber遗传性视神经病变的同胞兄弟姐妹中的患病和未患病个体进行问卷调查的回顾性病例对照研究。这些同胞兄弟姐妹在核苷酸位置11778（63个）、14484（10个）和3460（7个）处存在经分子确认的线粒体DNA突变。根据视力丧失前报告的消费量计算患病个体的暴露情况。
对于男性先证者（67个同胞兄弟姐妹），同胞兄弟姐妹中男性的复发风险为10.3%（78人中8人），女性为3.1%（98人中3人）。对于女性先证者（13个同胞兄弟姐妹），同胞兄弟姐妹中男性的复发风险为17.6%（17人中3人），女性为0%（22人中0人）。视力丧失风险较高与男性性别相关（优势比[OR]=6.63；95%置信区间[CI]=2.96至14.84；P=.00001），与携带3460或14484突变相比，携带11778突变的个体视力丧失风险较高（OR=2.071；95%CI=1.19至3.58；P=.0095）。未观察到吸烟的最大强度或累计吸烟量（无论轻度还是重度）与视力丧失之间存在显著关联。在调整年龄、性别和突变因素后，轻度饮酒者（OR=0.31；95%CI=0.17至0.56；P=.0001）和重度饮酒者（OR=0.25；95%CI=0.11至0.58；P=.0011）比不饮酒者受影响的可能性更小。在对携带3460或14484突变的同胞兄弟姐妹进行的分类分析中，未观察到视力丧失与烟草或酒精消费之间的关系。
与先前的研究不同，本研究根据视力丧失前自我报告的烟草或酒精消费量计算暴露情况。在携带Leber遗传性视神经病变突变的个体中，未观察到烟草或酒精消费与视力丧失之间存在显著的有害关联。烟草和酒精似乎不会促进Leber遗传性视神经病变患者的视力丧失。
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