Age-Related Macular Degeneration: A Genetic Epidemiology

视网膜相关性黄斑变性（AMD）是美国视力损害的主要原因。现有证据表明，AMD是一种复杂的疾病，具有重要的遗传成分以及潜在的环境影响。在这项合作研究中，我们建议检查3,000名成员，年龄50岁及以上，旧秩序阿米什社区在兰开斯特和富兰克林县在宾夕法尼亚州。我们计划详细的AMD的流行病学在这个人口隔离，试图阐明遗传因素，可能会赋予易感性和易感性，一些阿米什人和他们的家庭发展为AMD。同意入组并提供知情同意书的所有研究受试者将接受完整的散瞳眼部检查，在此期间将采集黄斑和视盘区域的数字立体图像。研究参与者还将被要求完成一份简短的问卷调查，询问与职业、阳光和吸烟有关的个人暴露情况。AMD将由威斯康星州大学眼底摄影阅读中心根据年龄相关眼病研究的AMD分类方案对数字眼底照片进行独立阅读来确定。 截至2005年7月，已对970名阿米什成年人进行了检查。已在820个个体的基于人群的样本中进行了补体因子H区域中突变的基因测序。这项研究正在进行中。

Age-related macular degeneration (AMD) is a leading cause of visual impairment in the United States. Available evidence suggests that AMD is a complex disorder with a significant genetic component as well as potential environmental influences. In this collaborative study we propose to examine 3,000 members, ages 50 and older, of the Old Order Amish community in the Lancaster and Franklin counties area in Pennsylvania. We plan to detail the epidemiology of AMD in this population isolate in attempt to elucidate genetic factors which may confer susceptibility and predispose some Amish individuals and their families to develop AMD. All study participants agreeing to enroll and providing informed consent will undergo a complete, dilated eye examination during which digital stereo images of the macula and optic disc regions will be acquired. Study participants will also be asked to complete a brief questionnaire inquiring about personal exposures related to occupation, sunlight, and smoking. AMD will be determined by an independent reading of the digital fundus photographs by the University of Wisconsin Fundus Photography Reading Center according to the Age-Related Eye Disease Study's AMD classification scheme. As of July 2005, 970 Amish adults have been examined. Genetic sequencing of mutations in a region of complement factor H have been performed in a population-based sample of 820 individuals. The study is on-going.