Rare case of X-Linked Retinoschisis presents as retinal detachment

Dr Yunjeong Lee and Dr Baek-Lok Oh at Seoul National University Hospital, Seoul, South Korea have reported a rare case of X-Linked Retinoschisis presents as retinal detachment. The case has appeared in the New England Journal of Medicine.

X-linked Retinoschisis or X-Linked Juvenile Retinoschisis is a rare congenital malformation of the retina caused by mutations in the RS1 gene with a prevalence of about 1 in 15,000 to 30,000, is the main cause of juvenile macular degeneration. It is characterized by symmetric bilateral macular involvement beginning in the first decade of life.

Patients typically present at school age complaining of poor vision, although they may present in infancy with nystagmus, strabismus, hyperopia, foveal ectopia, haemorrhage, or retinal detachment. However, there is wide variability in disease severity, ranging from normal vision to legal blindness, even among patients carrying the same mutation. X-linked retinoschisis may also present as spontaneous vitreous haemorrhage or retinal detachment. These complications occur commonly and are the main causes of complete vision loss.