DR. YADUNANDINI SINGH

DR. GOMPA MOHANA PREETHI

Abstract

ABSTRACT- BARDET BIEDL SYNDROME is a rare, autosomal recessive genetic disorder that can lead to dysfunction of multiple organ system including the kidney, genitalia, brain and eye.

CASE REPORT- A 28 year female patient presented with no perception of light in both eyes, POLYDACTYLY in both hands and feet, central obesity and intellectual impairment.

FUNDUS FINDING- RETINITIS PIGMENTOSA and consecutive optic atrophy.