PMID- 32300273 OWN - NLM STAT- MEDLINE DCOM- 20210510 LR - 20221207 IS - 1090-0535 (Electronic) IS - 1090-0535 (Linking) VI - 26 DP - 2020 TI - Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis. PG - 291-298 AB - PURPOSE: X-linked retinoschisis (XLRS) is an early-onset retinal degenerative disorder caused by mutations in the RS1 gene. The objective of this study was to describe the clinical and genetic findings in 90 unrelated Chinese patients with XLRS. METHODS: All patients underwent clinical examination, including best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, fundus examination, and spectral domain-optical coherence tomography (SD-OCT). A combination of molecular screening methods, including Sanger-DNA sequencing of RS1 and targeted next-generation sequencing (TES), were used to detect mutations. In silico programs were used to analyze the pathogenicity of all the variants. Long-range PCR with subsequent DNA sequencing was employed to find the breakpoints of large deletions. RESULTS: The 90 probands (mean age 17.29+/-12.94 years; 3-52 years) showed a variety of clinical phenotypes, and their average best correct visual acuity was 0.81+/-0.48 (logarithm of the minimal angle of resolution, 0-3). Of the 175 eyes analyzed, 140 (80%) had macular retinoschisis, 84 (48%) had peripheral retinoschisis, 28 (16%) had macular atrophy, and five (3%) had a normal macular structure. We identified 68 mutations in this cohort of patients, including 15 novel mutations. Most mutations (65%) were missense; the remaining null mutations included nonsense, splicing effect, frameshift indel, and large genomic DNA deletions. The 62 patients with missense mutations seemed to have relatively milder visual defects than the 28 patients with null mutations. CONCLUSIONS: Patients with RS1 mutations present profound phenotypic variability and show no clear genotype-phenotype correlations. Patients with null mutations tend to have more severe XLRS-related visual defects. CI - Copyright (c) 2020 Molecular Vision. FAU - Chen, Chunjie AU - Chen C AD - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China. FAU - Xie, Yue AU - Xie Y AD - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China. FAU - Sun, Tengyang AU - Sun T AD - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China. FAU - Tian, Lu AU - Tian L AD - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China. FAU - Xu, Ke AU - Xu K AD - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China. FAU - Zhang, Xiaohui AU - Zhang X AD - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China. FAU - Li, Yang AU - Li Y AD - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20200411 PL - United States TA - Mol Vis JT - Molecular vision JID - 9605351 RN - 0 (Codon, Nonsense) RN - 0 (Eye Proteins) RN - 0 (RS1 protein, human) SB - IM MH - Adolescent MH - Adult MH - Asian People/*genetics MH - Child MH - Child, Preschool MH - Chromosomes, Human, X/*genetics MH - Codon, Nonsense MH - Cross-Sectional Studies MH - Exome/genetics MH - Eye Proteins/blood/*genetics MH - Frameshift Mutation MH - Genetic Association Studies MH - Genetic Diseases, X-Linked/*genetics MH - Humans MH - INDEL Mutation MH - Male MH - Middle Aged MH - Mutation, Missense MH - Observational Studies as Topic MH - Optical Imaging MH - RNA Splicing MH - Retinoschisis/blood/diagnostic imaging/*genetics/physiopathology MH - Retrospective Studies MH - Sequence Deletion MH - Tomography, Optical Coherence MH - Visual Acuity PMC - PMC7155891 EDAT- 2020/04/18 06:00 MHDA- 2021/05/11 06:00 PMCR- 2020/01/01 CRDT- 2020/04/18 06:00 PHST- 2019/10/29 00:00 [received] PHST- 2020/04/09 00:00 [accepted] PHST- 2020/04/18 06:00 [entrez] PHST- 2020/04/18 06:00 [pubmed] PHST- 2021/05/11 06:00 [medline] PHST- 2020/01/01 00:00 [pmc-release] AID - 24 [pii] PST - epublish SO - Mol Vis. 2020 Apr 11;26:291-298. eCollection 2020.