Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China. Issue 4 (30th October 2020)

• Record Type: Journal Article
• Authors: Gao, Feng‐Juan; Dong, Jian‐Hong; Wang, Dan‐Dan; Chen, Fang; Hu, Fang‐Yuan; Chang, Qing; Xu, Ping; Liu, Wei; Li, Jian‐Kang; Huang, Ying; Wu, Ji‐Hong; Xu, Ge‐Zhi
• Is Part Of: Acta ophthalmologica. Volume 99:Issue 4(2021)
• Page Start: e470
• Page End: e479
• Publication Date: 2020-10-30
• Subjects: Chinese population -- clinical diagnosis -- molecular genetics -- optical coherence tomography -- RS1 -- X‐linked retinoschisis; Ophthalmology -- Periodicals; 617.7005
• DOI: 10.1111/aos.14642
• Languages: English
• ISSNs: 1755-375X

Abstract

Abstract: Purpose: To provides the clinical and genetic characteristics of a series of Chinese patients with X‐linked juvenile retinoschisis (XLRS) through multimodal imaging and next‐generation sequencing. Methods: Thirty patients (60 eyes) from 29 unrelated families of Chinese origin with XLRS were screened using multigene panel testing, and underwent a complete clinical evaluation. All variants identified in this study and reported in the Human Gene Mutation Database were analysed. Results: Twenty‐five distinct variants in the retinoschisin gene were identified, of which eight were novel, and one was de novo . Missense mutations were the most prevalent type, and mutation hot spot was localized in the discoidin domain. The mean Snellen best‐corrected visual acuity was 0.28 ± 0.17. Of all eyes presenting with schisis, 92.86% had lamellar schisis and 62.5% had peripheral schisis. Schisis changes mostly involved inner and outer nuclear layers. X‐linked juvenile retinoschisis (XLRS) patients had a high incidence of complications, and peripheral schisis was a risk factor for it. No obvious genotype–phenotype association was observed. Conclusion: This study provides comprehensive analyses of the genetic and clinical characteristics of XLRS in a cohort of Chinese patients. The fourth de novo mutation in RS1 was identified. And we show that XLRS has a wide spectrum of clinical characteristics; hence, molecular diagnosis is crucial for its diagnosis, differential diagnosis and genetic counselling. Peripheral schisis is a risk factor for the high incidence of complications, and no clear genotype–phenotype correlations were found.