先天性视网膜劈裂症一家系

来源 :中华眼底病杂志 | 被引量 : 0次 | 上传用户:lvlianpeng2009
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先天性视网膜劈裂症 (congenital retinoschisis) ,又称性连锁遗传性视网膜劈裂 ,多为 X连锁隐性遗传 ,少数为常染色体隐性或显性遗传。我们对 1例临床拟诊为非典型的先天性视网膜劈裂症患儿及其父亲以及母系家族的成员进行了详细的检查 ,又发现 2例男性患者 ,从而进一步肯定了 Congenital retinoschisis (congenital retinoschisis), also known as sex-linked hereditary retinal splitting, mostly X-linked recessive inheritance, a few are autosomal recessive or dominant inheritance. We conducted a detailed examination of 1 patient with congenital retinopathy of atypical congenital retinopathy who was clinically diagnosed as clinically diagnosed and 2 members of the maternal family who were further affirmed
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