DR. JOGITHA

Dr. SANDRA CHANDRAMOULI, Dr. SASIKALA ELIZBETH ANILKUMAR, Dr. Murali Krishnan Srinivasan

Abstract

A three year old boy presented with deviation of his left eye (LE) since infancy, whitish discoloration since 20 days. Examination revealed total cataract with closed funnel retinal detachment on B scan in LE and right eye inferior retinoschisis. Cataract aspiration was performed in his LE. As X linked inheritance pattern was suspected, his 1 year old male sibling with developmental delay was evaluated. Bilateral bullous retinoschisis with nasal foveal dragging in RE was noted. Diagnosis was confirmed by negative scotopic response, with absence of photopic flicker frequency on ERG. He is advised regular follow up.

Juvenile X linked retinoschisis manifests amongst males in the family. Once retinoblastoma is ruled out, it is prudent to investigate siblings as part of JXLR work up. A high index of suspicion, led to discovery of underlying condition in sibling, before its manifestation as a sight threatening retinal detachment- thus leading to a rescue of the younger sibling by the older