A rare case of Bardet-Biedl syndrome

Shrinkhal; Anupam Singh; Ajai Agrawal; Sanjeev Kumar Mittal; Hemlata Udenia; Ghawghawe Harshad Bandu

doi:10.4103/tjo.tjo_62_19

A rare case of Bardet-Biedl syndrome

Taiwan J Ophthalmol. 2019 Oct 17;10(2):138-140. doi: 10.4103/tjo.tjo_62_19. eCollection 2020 Apr-Jun.

Authors

Shrinkhal¹, Anupam Singh¹, Ajai Agrawal¹, Sanjeev Kumar Mittal¹, Hemlata Udenia¹, Ghawghawe Harshad Bandu¹

Affiliation

¹ Department 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.

Keywords: Bardet–Biedl syndrome; hypogonadism; polydactyly; retinitis pigmentosa sine pigmento.

Publication types

Case Reports