GENETIC ANALYSIS: OPHTHALMOLOGIC FAMILY DATA: AGING POPULATION: MACULOPATHY

海狸水坝眼科研究旨在确定患病率 白内障、老年性黄斑病变、青光眼和视力的严重程度 减损。在5189名年龄在43岁至84岁之间的人中，约有四分之一 参与研究的人结成了两个或更大的兄弟姐妹。 计算了许多性状的兄弟姐妹相关性， 这些人进行了眼科检查，然后 那些有显著兄弟姐妹相关性的性状 进行了分离分析。常染色体的适应症 客观数量分数存在隐性遗传 与三种特殊情况有关：(1)老年性黄斑病变， 按15级标尺测量，并根据年龄进行二次调整 回归；(2)核硬化症，按11级标准衡量， 根据年龄进行类似的调整；以及(3)皮质性白内障，以 涉及皮质混浊的面积百分比，根据两个年龄进行调整 还有性爱。目前正在进行一项联系研究，以期确认 存在这些导致视力损害的一个或多个主要基因 和确定相关的基因组位置(S)。

The Beaver Dam Eye Study was designed to determine the prevalence and severity of cataract, age-related maculopathy, glaucoma and visual impairment. About one quarter of the 5,189 persons aged 43 to 84 who participated in the study formed sibships of size two or larger. Sibling correlations were calculated for numerous traits for which these persons were scored on ophthalmologic examination, and then those traits for which there were significant sibling correlations were subjected to segregation analysis. Indications of autosomal recessive inheritance were found for objective quantitative scores related to three particular conditions: (1) age-related maculopathy, measured on a 15-step scale and adjusted for age by quadratic regression; (2) nuclear sclerosis, measured on an 11-step scale, similarly adjusted for age; and (3) cortical cataract, measured as the percent area involved with cortical opacities, adjusted for both age and sex. A linkage study is in progress with a view to confirming the existence of one or more of these major genes for visual impairment and determining the relevant genomic location(s).