Rod-sparing retinopathy – Unusual variant in bardet–Biedl syndrome

Abstract

Bardet–Biedl syndrome (BBS) is a genetic disorder characterized by retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. Retinal dystrophy in the form of rod-cone dystrophy is the most common diagnostic handle prompting investigation for BBS. We report a novel case of rod sparing or a cone-selective variant of retinopathy in BBS. To the best of our knowledge, this is the first report of such a case from India.