虹膜色素上皮的常染色体显性异常。
Autosomal-dominant anomalies of the iris pigment epithelium.
作者信息
Lee B L, Lanier A B, Bateman J B
机构信息
Department of Ophthalmology, Jules Stein Eye Institute, UCLA School of Medicine, USA.
出版信息
Ophthalmology. 1996 Oct;103(10):1696-9. doi: 10.1016/s0161-6420(96)30444-2.
PURPOSE
The authors document two families in which anomalies of the iris pigment epithelium occur as an autosomal dominant trait.
METHODS
Eyes of members of two families were examined for the presence of anomalies of the iris pigment epithelium.
RESULTS
In both families, anomalies characterized by iris pigment epithelial cysts and peripupillary ruffles were observed in successive generations. In one family, the proband was 3 months of age, and both cysts and ruffles were present in affected individuals.
CONCLUSIONS
Anomalies of the iris pigment epithelium can be inherited in an autosomal-dominant pattern. The cystic and ruffled phenotypes represent variable expressivity and may be evident in infancy.
目的
作者记录了两个家族，其中虹膜色素上皮异常以常染色体显性性状出现。
方法
检查两个家族成员的眼睛，以确定是否存在虹膜色素上皮异常。
结果
在两个家族中，连续几代人均观察到以虹膜色素上皮囊肿和瞳孔周围皱襞为特征的异常。在一个家族中，先证者3个月大，受影响个体中同时存在囊肿和皱襞。
结论
虹膜色素上皮异常可呈常染色体显性模式遗传。囊性和皱襞表型代表可变表达，且在婴儿期可能明显。
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