About X-Linked Retinoschisis
X-Linked Retinoschisis is a vitreoretinal dystrophy caused by mutations in the RS1 gene encoding retinoschisin, a protein secreted by photoreceptors that maintains the structural integrity of the retina through cell-to-cell adhesion. Loss of retinoschisin leads to splitting (schisis) of the retinal layers, most prominently in the fovea, resulting in reduced visual acuity that is typically identified in affected boys between three and ten years of age. The disease is stationary or slowly progressive in many patients, though complications such as vitreous haemorrhage and retinal detachment can cause acute vision loss.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to X-Linked Retinoschisis trials.
Molecular confirmation of a pathogenic RS1 variant is required for gene therapy trials; testing of at-risk male relatives is recommended to identify additional eligible patients.
Foveal cyst architecture on OCT is used as both a diagnostic and monitoring biomarker; baseline and recent OCT scans should be available for screening visits.
Some trials exclude patients with prior retinal detachment surgery or vitrectomy; disclose full surgical history during screening.
Patient Resources
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