Late ophthalmology findings in a X-linked juvenile retinoschisis patient

Abstract

ABSTRACT X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of life and complications like retinal detachment and vitreous hemorrhage. Herein, we present late ophthalmology findings in a XLRS patient.

Keywords

• Genetic diseases, X-linked
• Retinoschisis/diagnosis
• Tomography, optical coherence / methods
• Child