Klein M L, Mauldin W M, Stoumbos V D
Casey Eye Institute, Oregon Health Sciences University, Portland.
Arch Ophthalmol. 1994 Jul;112(7):932-7. doi: 10.1001/archopht.1994.01090190080025.
To determine the concordance of age-related macular degenerative changes in monozygotic twins.
Between 1984 and 1993, we examined a total of nine pairs of monozygotic twins with substantial age-related macular degenerative changes in at least one member of the pair, ranging from extensive large drusen to advanced atrophic and/or disciform scarring. Eight pairs were female and one pair was male. Ages ranged from 62 to 88 years. Monozygosity was confirmed by genetic testing in each of the seven twin pairs on whom it was performed.
In eight of the nine twin pairs, the fundus appearance and the incidence of visual impairment were similar. In the ninth pair, one twin had advanced exudative age-related macular degeneration with vision loss in one eye, while the other had large, confluent drusen and good visual function in both eyes. Environmental factor, including diet, geographic background, and medical history, were essentially similar in the twin pairs.
Although selection factors and similar environmental influences might impact our findings, the markedly similar incidence of macular degenerative changes in these monozygotic twins suggests that a substantial genetic component may exist in a potentially large proportion of patients with age-related macular degeneration. Further studies are warranted to define this hereditary influence.
确定单卵双胞胎中年龄相关性黄斑变性改变的一致性。
在1984年至1993年期间，我们共检查了9对单卵双胞胎，其中至少有一名成员出现了明显的年龄相关性黄斑变性改变，范围从广泛的大玻璃膜疣到晚期萎缩性和/或盘状瘢痕形成。8对为女性，1对为男性。年龄在62岁至88岁之间。在接受基因检测的7对双胞胎中，每对的单合子性均得到确认。
在9对双胞胎中的8对中，眼底表现和视力损害发生率相似。在第9对中，一名双胞胎患有晚期渗出性年龄相关性黄斑变性，一只眼睛视力丧失，而另一名双胞胎有大的融合性玻璃膜疣，双眼视力功能良好。双胞胎对中的环境因素，包括饮食、地理背景和病史，基本相似。
尽管选择因素和相似的环境影响可能会影响我们的研究结果，但这些单卵双胞胎中黄斑变性改变的明显相似发生率表明，在潜在的很大一部分年龄相关性黄斑变性患者中可能存在大量的遗传成分。有必要进行进一步研究以确定这种遗传影响。
