Bardet-Biedl syndrome

an autosomal recessive disease with severe visual impairment

Abstract

The authors report a case of a female patient with a former diagnosis of bilateral retinitis pigmentosa. After consultation in Ocular Genetics clinic with the authors, she was diagnosed with cone-rod dystrophy rather than retinitis pigmentosa. Besides this retinal alteration, it was also detected an increased body fat amount, mild learning disabilities, history of bilateral postaxial polydactyly of feet, and breast asymmetry. Thus, it was concluded that the patient presents clinical diagnosis of Bardet-Biedl syndrome.