X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy causing visual
impairment in males starting at a young age with an estimated prevalence of 1: 5000 to 1 …

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 …

Background Variation in the ABCA4 gene is causal for, or associated with, a wide range of
phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders …

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

Retinoschisin (RS1) is involved in cell–cell junctions in the retina, but is unique among
known cell-adhesion proteins in that it is a soluble secreted protein. Loss-of-function …

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 …

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 …

Background/aims Vitreous haemorrhage (VH) and retinal detachment (RD) cause a
precipitous decline in vision in a subset of patients with X-linked retinoschisis (XLRS), an …

Purpose: Glaucoma is a leading cause of irreversible blindness. Glaucomatous intraocular
pressure (IOP) triggers deleterious effects, including gliosis, optic nerve (ON) axonal …

In this article, we review the following 3 common juvenile macular degenerations: Stargardt
disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited …