title: Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.
abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.
authors.affiliation: Faculdade de Medicina, Universidade Estadual de Santa Cruz, Ilhéus, BA, Brazil. luis_jesuino@yahoo.com.br
authors.forename: Luis Jesuino de Oliveira
authors.initials: LJ
authors.lastname: Andrade
authors.forename: Rafael
authors.initials: R
authors.lastname: Andrade
authors.forename: Caroline Santos
authors.initials: CS
authors.lastname: França
authors.forename: Alcina Vinhaes
authors.initials: AV
authors.lastname: Bittencourt
mesh_terms: D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D012174:Retinitis Pigmentosa / Q000209:etiology* / Q000473:pathology