X-linked retinoschisis

ICD-10: Q14.1ORPHA: 792

Overview

X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with X-linked retinoschisis, sourced from HPO and Orphanet clinical annotations.

Abnormality of eye movementGlaucomaAbnormality of visionAbnormal electroretinogramProgressive visual lossRetinoschisisAbnormal foveal morphologyRetinal pigment epithelial atrophyVitreous hemorrhageERG: Reduced dark-adapted b-wave amplitudeHyperautofluorescent retinal lesionStrabismusRetinal detachmentNyctalopiaMizuo phenomenonAbsent foveal reflex

Classification & Codes

ICD-10 Code

Q14.1

Orphanet Code

ORPHA:792
X-linked retinoschisis
ICD-10Q14.1
OrphanetORPHA:792
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO