Abstract
A 19-year-old male presented with night blindness and gradual diminution of vision since 5 years. Clinical examination and investigations revealed bilateral atypical retinitis pigmentosa (punctata albescens) with foveal atrophy and optic disc drusen. On general examination, patient had central obesity, post-axial polydactyly and brachydactyly in upper and lower limbs, hypogonadism, cognitive deficit, and speech impairment, which were suggestive of Bardet–Biedl syndrome. This is a rare case of Bardet–Biedl syndrome with atypical retinitis pigmentosa (punctata albescens) and bilateral optic disc drusen.
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