A rare case of Bardet–Biedl syndrome with BBS12 gene

Abstract

We report a case of a 7-year-old girl who presented to us with diminution of vision in her both eyes since childhood. On ophthalmic evaluation, she was found to have the characteristic “sino pigmento” variety of pigmentary changes in retina. The other associated features were central obesity, polydactyly of hands and foot, syndactyly of foot, reduced hearing, and genital abnormalities. Based on these clinical features, a diagnosis of Bardet–Biedl syndrome was made. Her genetic analysis revealed the heterozygous variant for BBS12 gene. A refractive correction was done with explanation of disease. A multidisciplinary approach is required to enable them lead an improved quality of life.