目的:探讨一个X连锁先天性视网膜劈裂症家系的遗传学病因。方法:收集X连锁先天性视网膜劈裂症家系临床资料，采用聚合酶链式反应和Sanger测序法筛查先证者n RS1基因外显子及其侧翼序列的变异位点，采用限制性片段长度多态性聚合酶链式反应分析家系成员和100名无关正常人的相应位点，应用生物信息学方法预测该变异位点致病性。n 结果:该家系中的患者均有n RS1基因c.458T>G (p.Val153Gly)变异，家系内正常人及无关正常对照者不含该变异，携带者存在杂合变异，生物信息学分析表明该变异具有致病性。n 结论:RS1基因c.458T>G(p.Val153Gly)变异可导致X连锁先天性视网膜劈裂症。n “,”Objective:To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis.Methods:Clinical data of the pedigree was collected. Following DNA extraction, PCR and Sanger sequencing were carried out to detect potential variant in the n RS1 gene. The result was verified by using PCR and restriction fragment length polymorphism assay.n Results:All male patients were found to harbor a c. 458T>G (p.Val153Gly) variant of then RS1 gene, for which Their mothers were heterozygous carriers. The same variant was not detected among unaffected members of the pedigree as well as 100 healthy controls. Bioinformatic analysis suggested the variant to be pathogenic.n Conclusion:The c. 458T>G (p.Val153Gly) variant of then RS1 gene probably underlay the X-linked retinoschisis in this pedigree.n