Complicated Juvenile Sex-Linked Retinoschisis

Abstract

Case ReportIntroduction: Juvenile sex-linked retinoschisis is the most frequent of juvenile macular degenerations. It affects the male sex with variable expressiveness. The first clinical manifestations generally appear during the first decade, characterized by visual disturbances with a decrease in visual acuity of variable importance. Its evolution can be complicated by cataracts, strabismus, vitreous haemorrhage and retinal detachment. Case Report: A 14-year-old adolescent presented with severe bilateral low vision with nystagmus from early childhood, referred for etiological diagnosis. The examination of the right eye showed a visual acuity at negative light perception with a white cataract obstructing the eye fundus access. The examination of the left eye found visual acuity at hand motion, a posterior subcapsular cataract and at the eye fundus: a diffuse chorioretinal atrophy with a stellar macular changes. Ocular ultrasound of the right eye finds a retinal detachment on suspected retinoschisis without intravitreal haemorrhage, and a probable juvenile retinoschisis in the left eye. Macular OCT find in the left eye a cleavage in the retinal thickness evoking severe retinoschisis. The electrophysiological tests: electroretinogram, electro-oculogram and visual evoked potentials; were very altered in both eyes. Conclusion: Juvenile sex-linked retinoschisis is a serious condition that affects young boys, responsible for low vision due to macular damage. Through this rare case, we emphasize the interest of early diagnosis of juvenile retinoschisis and regular retinal monitoring in order to watch for progression to low vision or even blindness.