ETIOLOGIC STUDIES OF AGE RELATED MACULAR DEGENERATION

描述：(申请人摘要)老年性黄斑变性 美国老年人失明最常见的原因是 这种情况的病因尚不清楚，治疗选择有限。 有证据表明家族倾向是存在的，但确切的 遗传学在这种疾病中的作用尚不清楚。此外，还有 越来越多的证据表明，环境和生物 这些因素与疾病的表现有关。我们假设 受影响的个体具有潜在的遗传易感性 疾病的发展。 这项研究的目的是确定遗传易感性 老年性黄斑变性的发展。单身家庭将 将被招募进行候选基因分析和多基因家系 登记参加普通基因组筛查。此外，详细介绍了 将收集受影响和危险因素的生化和风险因素数据 研究中未受影响的受试者。由此得出的信息 这项研究将为这一疾病的病理生理学提供有价值的新见解 与年龄相关的疾病。

DESCRIPTION: (Applicant's Abstract) Age-related macular degeneration is the most common cause of blindness among elderly people in the U.S. The etiology of this condition is unknown, and treatment options are limited. There is evidence that a familial predisposition exists, but the exact role of genetics in the disorder is unknown. In addition, there is increasing evidence which suggests that environmental and biological factors are related to expression of the disease. We hypothesize that affected individuals have an underlying genetic susceptibility to development of the disorder. The purpose of this study is to determine the genetic susceptibility to development of age-related macular degeneration. Singleton families will be recruited for candidate gene analysis and multiplex families will be enrolled for general genomic screening. In addition, detailed biochemical and risk factor data will be collected on affected and unaffected subjects in the study. The information derived from this study will provide valuable new insight into the pathophysiology of this age-related disease.