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A rare case of Bardet-Biedl syndrome
Shrinkhal1, Anupam Singh1, Ajai Agrawal1
1Department of Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Abstract:
We report here a rare case of Bardet-Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver function test and mild renal involvement radiologically, high-arched palate, and low intelligence quotient. The patient was prescribed proper refractive correction and subjected to multidisciplinary management. BBS has ocular and systemic manifestations, requiring a multidisciplinary approach to treatment.
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