Bardet-biedl syndrome

الملخص EN

A twenty-nine year old lady presented to the ophthalmology clinic with night blindness and was found to have retinitis pigmentosa in association with mental retardation, obesity, polydactyly and history of renal calculi.

She is diagnosed with Bardet-Biedl syndrome which is a rare autosomal recessive ciliopathic multisystemic disorder.