biostudies-literatureUnknown13Wang XF<b>Purpose:</b> We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination. <b>Methods:</b> Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, including two twin siblings. All subjects received a full eye examination. Whole-exome sequencing (WES) and Sanger sequencing were performed on two twin probands and all participants, respectively. <b>Results:</b> A novel splice site mutation RS1.c.53-1G>A was identified in a Chinese congenital retinoschisis family. The mean onset age was 16.7 ± 2.4 years old. The average BCVA in patients was 0.37 ± 0.05. A typical spoke-wheel pattern was observed in all affected eyes. OCT examination reFrontiers in genetics993157https://www.ebi.ac.uk/biostudies/studies/S-EPMC9538544biostudies-literatureA novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.PMC9538544Chen FFXie ZGWang XFCheng XXZhou XfalseA novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.<b>Purpose:</b> We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination. <b>Methods:</b> Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, including two twin siblings. All subjects received a full eye examination. Whole-exome sequencing (WES) and Sanger sequencing were performed on two twin probands and all participants, respectively. <b>Results:</b> A novel splice site mutation RS1.c.53-1G>A was identified in a Chinese congenital retinoschisis family. The mean onset age was 16.7 ± 2.4 years old. The average BCVA in patients was 0.37 ± 0.05. A typical spoke-wheel pattern was observed in all affected eyes. OCT examination re2022-01-01T00:00:00Z20222025-04-22T21:52:03.322Z2025-02-19T01:27:37.68ZS-EPMC95385443621212510.3389/fgene.2022.993157