Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

View graph of relations

Author(s)

  • Feng-Juan Gao
  • Jian-Hong Dong
  • Dan-Dan Wang
  • Fang Chen
  • Fang-Yuan Hu
  • Qing Chang
  • Ping Xu
  • Wei Liu
  • Ying Huang
  • Ji-Hong Wu
  • Ge-Zhi Xu

Related Research Unit(s)

Detail(s)

Original languageEnglish
Number of pages10
Journal / PublicationActa Ophthalmologica
Online published30 Oct 2020
Publication statusOnline published - 30 Oct 2020

Link(s)

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.

Research Area(s)

  • Chinese population, clinical diagnosis, molecular genetics, optical coherence tomography, RS1, X-linked retinoschisis

Citation Format(s)

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China. / 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.

In: Acta Ophthalmologica, 30.10.2020.

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

Download Statistics

No data available