TY - JOUR

T1 - Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China

AU - Gao, Feng-Juan

AU - Dong, Jian-Hong

AU - Wang, Dan-Dan

AU - Chen, Fang

AU - Hu, Fang-Yuan

AU - Chang, Qing

AU - Xu, Ping

AU - Liu, Wei

AU - Li, Jian-Kang

AU - Huang, Ying

AU - Wu, Ji-Hong

AU - Xu, Ge-Zhi

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - Chinese population

KW - clinical diagnosis

KW - molecular genetics

KW - optical coherence tomography

KW - RS1

KW - X&#8208

KW - linked retinoschisis

KW - RS1 GENE

KW - RETINAL-DETACHMENT

KW - MUTATIONS

KW - FAMILIES

KW - DIAGNOSIS

KW - PHENOTYPE

KW - GENOTYPE

KW - COHORT

U2 - 10.1111/aos.14642

DO - 10.1111/aos.14642

M3 - Journal article

C2 - 33124204

VL - 99

SP - e470-e479

JO - Acta Ophthalmologica

JF - Acta Ophthalmologica

SN - 1755-375X

IS - 4

ER -