Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients

• Published in: Frontiers in genetics Vol. 13; p. 832814
• Main Authors: Guo, Qingge, Li, Ya, Li, Jiarui, You, Ya, Liu, Changgeng, Chen, Kang, Li, Shuyin, Lei, Bo
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 04.03.2022
• Subjects: ERG; Genetics; next-generation sequencing; SS-OCT; X-linked juvenile retinoschisis; SS-OCT; X-linked juvenile retinoschisis; ERG; next-generation sequencing; AO

Purpose: X-linked juvenile retinoschisis (XLRS), caused by mutations in the RS 1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first 2 decades of life. Recently, the phenotype heterogeneity of this condition has drawn increasing attention. We reported vari...