Family case of X-Linked Retinoschisis with ocular complications

Abstract

Introduction Juvenile retinoschisis or X-Linked Retinoschisis (XLR) is a rare congenital disease of the retina, caused by mutations in the RS1 gene, which encodes retinoschisin, a protein, which is found throughout the retina, and is thought to be involved in cell-cell adhesion and intercellular matrix retinal architecture development through interactions with αβ crystallin and β2-laminin. XLR is characterized by bilateral maculopathy, with associated peripheral retinoschisis in 50%. Complications include vitreous haemorrhage (4% - 40%), subretinal exudation, neovascularization, and rhegmatogenous or tractional retinal detachment (5%–22%). Purpose To emphasize the clinical manifestations and particularities of X-linked retinoschisis. Material and methods We have evaluated the case of 3 patients, men, first degree relatives (brothers) with progressive decrease of visual functions. Results First patient, 26 years old, complained of progressive loss of vision from childhood (Fig.1). VA OD/OS – 0,4 n.c./ CF at 30 cm. IOP OD/OS – 14/15 mmHg. Diagnosis: OU X-Linked Retinoschisis. Complicated cataract. OD Vitreoretinal tractional membrane. Barrage laser was performed for the vitreoretinal tractional membrane. Second patient, 33 years old, complained of progressive loss of vision from childhood (Fig.2). VA OD/OS – 0,6 n.c./ 0,12 n.c. IOP OD/OS – 18/17 mmHg. Diagnosis: OU X-Linked Retinoschisis. Third patient, 37 years old, complained of progressive loss of vision from childhood (Fig.2). VA OD/OS –PLC/ 0,4 n.c. IOP OD/OS – 14/18 mmHg. Diagnosis: OU X-Linked Retinoschisis. OD Rhegmatogenous retinal detachment, vitreous hemorrhage. Surgical treatment (vitrectomy) was performed on OD. Conclusions Patients with X-linked retinoschisis need to be monitorised for indication of an appropriate treatment and prevention of serious complications, which may lead to significant impairment of visual function.