Objective To investigate the correlation between mutation genotypes and phenotypes of X-linked retinoschisis (XLRS) patients. Methods 33 male XLRS patients, 26 female carriers and 100 normal subjects were enrolled in this study. All 33 XLRS patients were bilateral, which included 18 patients from 8 families and 15 sporadic patients. Among 66 XLRS eyes, there are microcystis-like foveal splitting in 49 eyes (74.2%), lamellar macular splitting in 43 eyes (65.2%), peripheral splitting in 32 eyes (48.5%), retinal detachment in 17 eyes (25.8%), and vitreous hemorrhage in 8 eyes (13.6%). Electroretinogram was performed on 42 eyes which showed decreased amplitude of b-wave. The 6 exons of RS1 gene were amplified by polymerase chain reaction and then directly sequenced.The correlation analysis was performed between mutation genotypes and phenotypes. Results There were 19 RS1 gene mutations including 6 novel mutations (p.Gly70Cys, p.Trp112Arg, p.Arg156Trp, p.His207ProfsX56, p.Arg209AlafsX28, p.Cys223Tyr). There was no correlation between mutation genotypes and phenotypes ( chi;2=0.731, 3.438, 0.820, 3.208, 1.992; P＞0.05 ).Conclusions RS1 gene mutation is a major cause of XLRS. The RS1 mutation genotype is not correlated with phenotype, so that the prognosis cannot be predicted by the genotypes.
Citation： 余洪华,李涛,雷蕾,丁小燕,李加青,胡洁,朱晓波,罗燕,李士清,胡安娣娜,唐仕波. Correlation between RS1 gene mutation genotypes and phenotypes in X-linked retinoschisis. Chinese Journal of Ocular Fundus Diseases, 2011, 27(5): 409-413. doi: Copy