X连锁青少年视网膜劈裂症（XLRS）：基因型-表型关系综述
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
作者信息
Kim David Y, Mukai Shizuo
机构信息
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston , Massachusetts , USA.
出版信息
Semin Ophthalmol. 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299.
X-linked juvenile retinoschisis (XLRS) is one of the most common genetic causes of juvenile progressive retinal-vitreal degeneration in males. To date, more than 196 different mutations of the RS1 gene have been associated with XLRS. The mutation spectrum is large and the phenotype variable. This review will focus on the clinical features of XLRS and examine the relationship between phenotype and genotype.
X连锁青少年视网膜劈裂症（XLRS）是男性青少年进行性视网膜玻璃体变性最常见的遗传病因之一。迄今为止，已发现超过196种不同的RS1基因突变与XLRS相关。突变谱广泛，表型多样。本文将重点关注XLRS的临床特征，并探讨表型与基因型之间的关系。
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