Dr.Ajay Kar

Abstract

The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. A 10 year old boy presenting to Ophthalmology outpatient with decrease in vision associated with night blindness. On examination he had hypogonadism , marked central obesity, retinal dystrophy, polydactyly, renal involvement, and mental retardation. He was diagnosed to be a classical case of BSS. The treatment of Bardet-Biedl syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.