Dr.DR.ROHINI JUNEJA

Abstract

A 17 year old male was under our regular follow up for high myopia with amblyopia , posterior staphyloma and tesselated fundus both eyes . He had gradual diminution of vision with progression of myopia. Also he developed renal failure for which he was admitted. He had morbid obesity and mental retardation. There was history of consanguinity. On further investigations he was found to have hypogonadism, chronic kidney disease and parathyroid hyperplasia. His Clinical exome analysis revealed Bardet- Biedl Syndrome- 16 with autosomal recessive inheritance.