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CASE REPORT
Year : 2020  |  Volume : 10  |  Issue : 2  |  Page : 138-140

A rare case of Bardet–Biedl syndrome


Department of Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

Correspondence Address:
Dr. Shrinkhal
Department of Ophthalmology, All India Institute of Medical Sciences, Rishikesh . 249 203, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjo.tjo_62_19

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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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