{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Wang XF"],"pubmed_abstract":["<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 re"],"journal":["Frontiers in genetics"],"pagination":["993157"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9538544"],"repository":["biostudies-literature"],"pubmed_title":["A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis."],"pmcid":["PMC9538544"],"pubmed_authors":["Chen FF","Xie ZG","Wang XF","Cheng XX","Zhou X"],"additional_accession":[]},"is_claimable":false,"name":"A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.","description":"<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 re","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-22T21:52:03.322Z","creation":"2025-02-19T01:27:37.68Z"},"accession":"S-EPMC9538544","cross_references":{"pubmed":["36212125"],"doi":["10.3389/fgene.2022.993157"]}}