RecruitingPhase 3NCT05878860
Ophthalmological
X-Linked Retinoschisis
Also known as XLRS, juvenile retinoschisis, RS1 deficiency
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 o
ORPHA:792 ↗Gene RS1Prevalence 1 per 5,000–25,000 malesOnset Early childhood (usually detected by school age)X-linked recessive
6
studies recruiting now
as of 7 Sept 2026
15
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
31 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT02435940
Inherited Retinal Degenerative Disease Registry
RecruitingNCT07502664
Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
RecruitingEarly phase 1NCT06345898
Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)
RecruitingNCT06375239
Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 6 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
Reduced central visual acuity (typically 20/60 to 20/120)Foveal schisis visible on OCT as cystic spacesSpoke-wheel or stellate pattern at the fovea on fundus examinationPeripheral schisis in approximately 50% of patientsElectronegative ERG (markedly reduced b-wave relative to a-wave)Strabismus or nystagmus in some childrenRisk of vitreous haemorrhageRisk of retinal detachment
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Acetazolamide (Acetazolamide)
Before you apply
Things trial teams commonly ask about for X-Linked Retinoschisis. Not eligibility rules; those are set by each study.
- 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.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).