Late ophthalmology findings in a X-linked juvenile retinoschisis patient

Achados oftalmológicos tardios em um paciente portador de retinosquise juvenil ligada ao cromossomo X

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