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Nigerian Journal of Ophthalmology

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Rod-Sparing Retinopathy – Unusual variant in Bardet–Biedl Syndrome

Sowmya Raveendra Murthy, Keerthi Gunda

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




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