Piguet B, Wells J A, Palmvang I B, Wormald R, Chisholm I H, Bird A C
Department of Clinical Ophthalmology, Institute of Ophthalmology, London.
Br J Ophthalmol. 1993 Jul;77(7):400-3. doi: 10.1136/bjo.77.7.400.
For many years there has been controversy concerning the role of genetic influences in the pathogenesis of age-related macular disease. It is widely believed that the lesions causing visual loss occur in response to age-related changes in Bruch's membrane which are recognised clinically as drusen. In this study the density, size, and confluence of drusen as shown on colour photographs were compared in eyes of 50 spouses and 53 sibling pairs ascertained during a prospective study of age-related macular disease. Concordance between pairs of drusen--number, size, and density-were determined by kappa statistic and chi 2 test for trend. Drusen were absent in one sibling and 26 spouses of patients. There was a trend towards concordance of drusen characteristics between siblings but not between spouses, although the difference achieved 5% significance only for the number and density of drusen in the central macula. The difference of concordance between the probands and spouses and the probands and siblings was significant for all characteristics. These findings support the belief that genetic factors influence age-related changes in Bruch's membrane. They also imply that environmental factors are less important or alternatively that the environmental variation between households included in our study was not great enough to be evident.
多年来，关于遗传因素在年龄相关性黄斑病变发病机制中的作用一直存在争议。人们普遍认为，导致视力丧失的病变是对 Bruch 膜中与年龄相关的变化做出的反应，临床上将这些变化识别为玻璃膜疣。在这项研究中，在前瞻性年龄相关性黄斑病变研究中确定的 50 对配偶和 53 对兄弟姐妹的眼睛中，比较了彩色照片上显示的玻璃膜疣的密度、大小和融合情况。通过kappa统计量和趋势χ²检验确定玻璃膜疣对之间的一致性——数量、大小和密度。患者的 1 名兄弟姐妹和 26 名配偶没有玻璃膜疣。兄弟姐妹之间的玻璃膜疣特征有一致的趋势，但配偶之间没有，尽管仅中央黄斑区玻璃膜疣的数量和密度差异达到了 5% 的显著性。先证者与配偶以及先证者与兄弟姐妹之间在所有特征上的一致性差异均具有显著性。这些发现支持了遗传因素影响 Bruch 膜中与年龄相关变化的观点。它们还意味着环境因素不太重要，或者说我们研究中纳入的家庭之间的环境差异不够大，不足以显现出来。
