家族性视网膜色素变性临床遗传学研究  

A Research of Clinical Genetics of Family Retinitis Pigmentosae

作　　者：丁法德[1,2,3] 张新[1,2,3] 杨景存[1,2,3] 雷博 尤毅[1,2,3] 左志高[1,2,3] 王玉英[1,2,3] 游文风 左超成 郑红[1,2,3] 

机构地区：[1]河南医科大学第一附属医院眼科 [2]河南医科大学医学遗传研究所 [3]洛阳医专附属医院

出　　处：《眼科研究》1996年第3期203-205,共3页Chinese Ophthalmic Research

摘　　要：对一家系６代视网膜色素变性患者及家族成员８０余人进行调查，结果表明患病人数２４例，患病率３０％。其中男性患者１５例，女性患者９例。而在本家族血统者６２人中，患病率３９％。家系中连续６代均有患者，男女发病机率均等，遗传学分析确定为常染色体显性遗传病。文中列举讨论了一些典型病例和特异现象，如并发恶性青光眼、先天性白内障、先天性视网膜血管异常等，值得进一步研究和探讨。 family line investigation on six generation retinitis pigmentosae and about eighty family members showed that the morbidity was about thirty percent(24/80),twenty four cases,fifteen males and nine females.But in sixty two members of the descentself,the case rate was about thirty nine percent (24/62).All six generations in the genealogy had patients,and sickness rates in males and females were almost equal.Genetic analysis indicated that the genealogy was a family autosomal dominant inheritance.Some cases and special abnomities were reported and discussed,such as retinitis pigmentosa with malignant glaucoma,congenital cataract,congenital retinovascular anomaly,etc.All these are worth investigating further.

关 键 词：视网膜色素变性 遗传学 患病率 

分 类 号：R774.130.2[医药卫生—眼科]