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

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.