Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials.

ABSTRACT:

Introduction

X-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, RS1. Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS gene therapy trials have been attempted but none have met their primary endpoints. An improved understanding of XLRS natural history and clinical outcomes may better inform future trials. Here, we report the long-term functional and structural outcomes of XLRS and the relevance of RS1 genotypes to the visual prognosis of affected individuals.

Methods

A retrospective chart review of patients with molecularly confirmed X-linked retinoschisis was performed. Functional and structural outcomes, and RS1 genotype data, we

SUBMITTER: Fenner BJ 

PROVIDER: S-EPMC10310546 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature