Pediatria pre prax 1/2022

Juvenile retinoschisis

Juvenile retinoschisis is a hereditary retinal dystrophy with gonosomal recessive inheritance. It is caused by mutations in the RS1 gene, which encodes the protein responsible for the adhesion of neuroretinal layers. This disease affects boys with symptoms most commonly developing in preschool and early school age with a reduction in visual acuity due to retinal schisis at nerve fibre level. It can be associated with complications such as strabismus, nystagmus, retinal detachment, and vitreous haemorrhage. The authors of this article offer a case report of a patient with juvenile retinoschisis that shows the challenge of diagnosing this disease in young children, especially due to minimal initial ophthalmoscopic findings and technical-related difficulty of OCT realisation in anaesthesia.

Keywords: retinal dystrophies, juvenile retinoschisis, strabismus, gonosomal recessive inheritance, RS1 gene