先天性白内障合并先天性虹膜发育异常的临床表型

背景 先天性白内障临床类型与遗传基因位点存在一定的相关性,而不同致病基因的先天性白内障可伴发相同的眼部合并症,同时不同的眼部合并症可由同一致病基因引起,它们之间是否存在对应关系尚未明确.目的 观察先天性白内障合并先天性虹膜发育异常的表现类型,总结其发病规律.方法 对云南省第二人民医院眼科诊治的先天性白内障合并先天性虹膜发育异常患者15例进行眼科形态学观察,分析不同类型的先天性白内障伴发虹膜发育异常的特点.结果 15例患者均为双眼发病,7例核性白内障并发完全性虹膜缺损,2例全白内障并发部分完全性虹膜缺损,5例全白内障并发无虹膜,1例缝性白内障并发无虹膜.结论 不同类型白内障合并的虹膜发育不全有一定的规律性,为进一步研究其致病原因和发病机制提供依据.

Phenotype of congenital cataract accompanied with iris dysplasia

Background Certain relationship has been found between phenotype and genes mutation of congenital cataract. It is clear that different genetic mutations can cause the same complication in congenital cataract, meanwhile,different complications may be caused by the same gene mutation. However, their mechanism is still remained unclear. Objective This study was to observe the pbenotype of congenital cataract accompanied with iris dysplasia. Methods Fifteen patients with congenital cataract accompanied with iris dysplasia were included in this study. The slit lamp, gonioscope and ophthalmoscope were used for the examination of the anterior ocular segment,the anterior chamber angle and fundus on all the patients. This study was approved by the Ethic Committee of Second People＇ s Hospital of Yunnan Province. Written informed consent was obtained from each patient or the custodian prior to any medical procedure. Results All the patients showed binocular involvement. Congenital nuclear cataract with whole coloboma of iris was seen in 7 cases,and 2 cases showed an entire cataract associated with incomplete coloboma of iris. Entire cataract with aniridia was diagnosed in 5 patients,and suture cataract complicated with aniridia was in 1 patient. Conclusions Some regular patterns can be implied between the morphological type of cataract and iris dysplasia,which may be helpful for further study of these diseases.