关键词:黄斑变性/遗传学
摘要 目的 探讨老年黄斑变性(ARMD)是否存在遗传因素。 方法 分析一个7姊妹兄弟的家族中,4位成员的老年黄斑变性患病情况。 结果 在被检查的6位60岁以上的姊弟中,3位男性均患ARMD,且其中2姊弟为湿性型,其线粒体脱氧核糖核酸(mtDNA)均呈突变。虽然这些成员长期生活在不同国家和环境,却有类似的临床或实验室改变。 结论 从本家族ARMD发病情况看,ARMD发病机制上可能存在遗传因素。
Genetic factor in age-related macular degeneration
Wu Lezheng, Yu Jian, Chen Youzhao, et al. Department of Ophthalmology, Sun Yet-Sen University of Medical Sciences, National Ophthalmological Laboratory, Ministry of Public Health, Guangzhou 510060
Abstract Objective To observe the genetic factor in age-related macular degeneration (ARMD). Methods Four cases of ARMD in a family of 7 sisters and brothers, over 60 years old were analysed. Results Among 6 members of the family examined. Three males were found to have ARMD. One elder sister and one younger brother had wet form ARMD with severe visual impairment. They had same pattern of mitochondrial DNA deletion in cytoplasm of blood red cells, although they have lived in different countries and geographic environments for a long time. Conclusions The pathogenesis of ARMD may relate to genetic factor.
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