DR. DHRUV GOYAL

DR. VIVEK WANI, DR. MITALI MANGOLI, DR. ARYA WAKANKAR

Abstract

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder that can lead to dysfunction of multiple organ systems. It is caused by mutations of proteins involved in function of the cilium, a specialized cellular organelle common to many cell types throughout the body. The MC exhibited feature of BBS is retinal rod-cone dystrophy.

A 12-year-old child born of a 2nd degree consanguineous marriage, was brought to the OPD due to complaints of diminished vision at night since 3 years. She had history of surgical removal of extra fingers from both the hands at the age of 3 months. Her younger sister also has similar complaints. On examination, her left foot has polydactyly. VA in BE is 6/36. Anterior segment is normal. Fundus shows Bony spicules in the periphery, drusen like deposits around the macula. OCT shows generalized thinning of fovea and choroidal thickening. Genetic testing showed positivity for BBS1 gene.

Patient was counselled for visual rehabilitation.