Abstract

Bardet-biedl syndrome is an multisystem non-motile ciliopathy autosomal recessive condition characterised by rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
Other features which are usually uncommon include hepatic fibrosis, diabetes mellitus, reproductive abnormalities, endocrinological disturbances, short stature, developmental delay, and speech deficits.
It is genetically heterogeneous, with four loci identified till date.These are bbs1 (11q13), bbs2 (16q22), bbs3 (3p13), and bbs4 (15q21).A 13 year old male patient presented to us with history of diminution of vision of both eyes.We report a typical case of biedl bardet syndrome in a male of 13 years old. he presented with an early onset blindness and ocular features like atypical retinitis pigmentosa, strabismus. He also showed classical non ocular features such as obesity, polydactyly, mental retardation.