Bardet-Biedl Syndrome

Abstract

Bardet-Biedl syndrome is a rare multisystem disease with an autosomal recessive pattern of inheritance caused by mutations in the genes encoding cell cilia proteins. The diagnosis is primarily clinical, requiring four major features or three major and two minor features to make the diagnosis. Bardet-Biedl syndrome is distinguished by the presence of retinal dystrophy, polydactyly, obesity, renal malformations, learning delay or impairment and genitourinary disorders. Retinal dystrophy is its most consistent major feature, presenting itself as a cone dystrophy of the atypical retinitis pigmentosa type with rapid progression and minimal pigmentary changes in the early stages. The management should have a multidisciplinary approach and patients should be included in educational programs for the visually impaired. In order to update the knowledge about Bardet-Biedl syndrome, a review was carried out of the most relevant publications related to the subject during the last years, with the aim of deepening and improving the understanding of Bardet-Biedl syndrome.