孔源性视网膜脱离的家系调查

Investigation of rhegmatogenous retinal detachment families

目的探讨孔源性视网膜脱离(rhegmatogenous retinal detachment,RRD)家系成员的临床特征和遗传方式。方法收集RRD家系,全身检查和眼科检查,绘制系谱图。结果共获取4个有≥4人患RRD的家系。所有家系成员均无早期颜面部、关节、听力改变,以及特征性的玻璃体病变。所有患病成员视网膜均复位。家系中的RRD呈显性遗传方式传代。结论此4个家系为诊断明确的RRD家系,可用于RRD基因的定位和筛选研究。

Objective To study the clinical appearance and heredity mode of inherited rhegmatogenous retinal detachments （RRDs）. Methods The RRI） families were firstly selected, then the medical records collection, careful systematic and eye examination were given to all the RRD family members. The pedigree maps were drawn. Results 4 RRD families were enrolled in this study, Every family has more than or equal to 4 RRD patients in it. None of the family members showed facial, articular, auditory, and typical vitreous change, All the retinas attached in the RRD members. RRD in these families were inherited dominantly. Conclusions All these 4 families were identified as RRD families, not systematic syndrome families. The data of the family members can be usedd in further study of RRD gene map and gene scan,