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Published:
Feb 8, 2019Keywords:
Bardet–Biedl syndrome obesity polydactyly retinitis pigmentosa rod sparing
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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.
Keywords: Bardet–Biedl syndrome, obesity, polydactyly, retinitis pigmentosa, rod sparing
