Case Report: X-Linked Retinoschisis

Abstract

X-linked retinoschisis (XLRS) is a rare inherited vitreoretinal dystrophy caused by mutations in the RS1 gene located on chromosome Xp22.2. The disorder predominantly affects males and is characterized by splitting of the retinal layers, particularly within the macular region, resulting in progressive visual impairment beginning in childhood. Early diagnosis is essential because patients are at risk of developing serious complications, including vitreous hemorrhage and retinal detachment, which may further compromise visual function. This case report describes the clinical presentation, diagnostic evaluation, and management of a 12-year-old boy diagnosed with XLRS. The patient presented with gradually progressive bilateral visual deterioration and a positive maternal family history of similar ocular disease. Comprehensive ophthalmic examination included best-corrected visual acuity assessment, fundus examination, optical coherence tomography (OCT), and molecular genetic analysis. Fundoscopic evaluation revealed bilateral foveal schisis with characteristic spoke-wheel retinal folds, while OCT demonstrated multilayer schisis cavities involving both the inner and outer retinal layers. Genetic testing confirmed a hemizygous mutation in the RS1 gene, establishing the diagnosis of XLRS. The patient received conservative management consisting of visual rehabilitation, routine ophthalmic monitoring, and genetic counseling. This case highlights the importance of integrating clinical examination, retinal imaging, and molecular diagnostics for accurate diagnosis. Early recognition and long-term follow-up are crucial for preventing vision-threatening complications and improving patient outcomes. Furthermore, advances in molecular genetics and emerging gene therapy provide promising future therapeutic strategies for individuals affected by XLRS.