Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
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, pigmen...
| Autores: | , , , |
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| Tipo de documento: | artigo |
| Estado: | Versão publicada |
| Data de publicação: | 2009 |
| País: | Brasil |
| Recursos: | Universidade Federal de São Paulo (UNIFESP) |
| Repositório: | Repositório Institucional da UNIFESP |
| Idioma: | inglês |
| OAI Identifier: | oai:repositorio.unifesp.br:11600/5267 |
| Acesso em linha: | http://dx.doi.org/10.1590/S0004-27492009000500019 http://repositorio.unifesp.br/handle/11600/5267 |
| Access Level: | Acceso aberto |
| Palavra-chave: | 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 |
| Resumo: | 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. |
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