Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review

Arquivos Brasileiros de Oftalmologia

Luis Jesuino De Oliveira Andrade¹  Rafael Andrade²  Caroline Santos França²  Alcina Vinhaes Bittencourt² 

[1] ,Universidade Estadual de Santa Cruz Faculdade de Medicina Ilhéus BA ,Brazil

关键词: Bardet-Biedl syndrome;    Retinitis pigmentosa;    Retinal degeneration;    Human;    Female;    Adolescent;    Case reports;    Síndrome de Bardet-Biedl;    Retinite pigmentosa;    Degeneração retiniana;    Humano;    Feminino;    Adolescente;    Relatos de casos;   

DOI  :  10.1590/S0004-27492009000500019

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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