Retinoschisin (RS1) is a secreted protein that is essential for maintaining integrity of the
retina. Numerous mutations in RS1 cause X-linked retinoschisis (XLRS), a progressive …

X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a
prominent macular component, that affects males and generally spares heterozygous …

Purpose To describe the natural course, phenotype, and genotype of patients with X-linked
retinoschisis (XLRS). Design Retrospective cohort study. Participants Three hundred forty …

Objective To evaluate efficacy of a novel adeno-associated virus (AAV) vector, AAV2/4-RS1,
for retinal rescue in the retinoschisin knockout (Rs1-KO) mouse model of X-linked …

Basement membranes help to establish, maintain, and separate their associated tissues.
They also provide growth and signaling substrates for nearby resident cells. The internal …

X-linked juvenile retinoschisis (XLRS) is a hereditary retinal degeneration affecting young
males caused by mutations in the retinoschisin (RS1) gene. We generated human induced …

To understand RS1 gene interaction networks in the X-linked retinoschisis (XLRS) mouse
retina (Rs1−/y), we analyzed the transcriptome by RNA sequencing before and after in vivo …

The activation of the GATA-binding factor 4 (GATA4) transcription factor induces cardiac
hypertrophy and heart failure. The multimerization of transcription factors often plays an …

Introduction X-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by
pathogenic mutations in the retinoschisin gene, RS1. Affected individuals develop retinal …

Background/aims X-linked retinoschisis (XLRS), associated with RS1, is the most common
type of X-linked retinopathy in children. This study aimed to identify clinical and genetic …