Abstract

A 14year old female presented with complaints of defective vision in both eye since childhood.She also reported inability to distinguish colours and point out fine details of objects.Her best corrected visual acuity was Re)6/36 with correction improving to 6/18,Le)6/36 NIG NIP. BE) colour vision was defective.Tension by GAT Re)16 mmhg,Le)16 mmhg.Anterior segment was within normal limits.Fundus examination revealed BE) pigment mottling with macular atrophy sparing peripheral retina.OCT macula revealed Retinal pigment epithelium and Retinal atrophy.Visual field testing revealed Relative central Scotomas progressing to Absolute central scotomas.full field ERG performed which revealed Normal scotopic response with Minimally reduced photopic response.FFA showed Silent choroid.Genetic testing was advised as it runs in family.