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...

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Detalles Bibliográficos
Autores: Andrade, Luis Jesuino De Oliveira, Andrade, Rafael [UNIFESP], França, Caroline Santos, Bittencourt, Alcina Vinhaes
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2009
País:Brasil
Institución:Universidade Federal de São Paulo (UNIFESP)
Repositorio:Repositório Institucional da UNIFESP
Idioma:inglés
OAI Identifier:oai:repositorio.unifesp.br:11600/5267
Acceso en línea:http://dx.doi.org/10.1590/S0004-27492009000500019
http://repositorio.unifesp.br/handle/11600/5267
Access Level:acceso abierto
Palabra clave: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
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spelling Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature reviewRetinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literaturaBardet-Biedl syndromeRetinitis pigmentosaRetinal degenerationHumanFemaleAdolescentCase reportsSíndrome de Bardet-BiedlRetinite pigmentosaDegeneração retinianaHumanoFemininoAdolescenteRelatos de casosBardet-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.A síndrome de Bardet-Biedl (BBS) é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.Universidade Estadual de Santa Cruz Faculdade de MedicinaUniversidade Federal de São Paulo (UNIFESP)Universidade Federal da Bahia Hospital Universitário Prof. Edgard Santos Serviço de OftalmologiaUFBAUNIFESPSciELOConselho Brasileiro de OftalmologiaUniversidade Estadual de Santa Cruz Faculdade de MedicinaUniversidade Federal de São Paulo (UNIFESP)Universidade Federal da Bahia Hospital Universitário Prof. Edgard Santos Serviço de OftalmologiaUFBA2015-06-14T13:41:11Z2015-06-14T13:41:11Z2009-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion694-696application/pdfhttp://dx.doi.org/10.1590/S0004-27492009000500019Arquivos Brasileiros de Oftalmologia. Conselho Brasileiro de Oftalmologia, v. 72, n. 5, p. 694-696, 2009.10.1590/S0004-27492009000500019S0004-27492009000500019.pdf0004-2749S0004-27492009000500019http://repositorio.unifesp.br/handle/11600/5267ark:/48912/001300002b5gmengArquivos Brasileiros de Oftalmologiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPAndrade, Luis Jesuino De OliveiraAndrade, Rafael [UNIFESP]França, Caroline SantosBittencourt, Alcina Vinhaes2024-07-28T18:20:21Zoai:repositorio.unifesp.br:11600/5267Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-07-28T18:20:21Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literatura
title Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
spellingShingle Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
Andrade, Luis Jesuino De Oliveira
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
title_short Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_full Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_fullStr Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_full_unstemmed Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_sort Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
dc.creator.none.fl_str_mv Andrade, Luis Jesuino De Oliveira
Andrade, Rafael [UNIFESP]
França, Caroline Santos
Bittencourt, Alcina Vinhaes
author Andrade, Luis Jesuino De Oliveira
author_facet Andrade, Luis Jesuino De Oliveira
Andrade, Rafael [UNIFESP]
França, Caroline Santos
Bittencourt, Alcina Vinhaes
author_role author
author2 Andrade, Rafael [UNIFESP]
França, Caroline Santos
Bittencourt, Alcina Vinhaes
author2_role author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual de Santa Cruz Faculdade de Medicina
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal da Bahia Hospital Universitário Prof. Edgard Santos Serviço de Oftalmologia
UFBA
dc.subject.por.fl_str_mv 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
topic 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
description 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.
publishDate 2009
dc.date.none.fl_str_mv 2009-10-01
2015-06-14T13:41:11Z
2015-06-14T13:41:11Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1590/S0004-27492009000500019
Arquivos Brasileiros de Oftalmologia. Conselho Brasileiro de Oftalmologia, v. 72, n. 5, p. 694-696, 2009.
10.1590/S0004-27492009000500019
S0004-27492009000500019.pdf
0004-2749
S0004-27492009000500019
http://repositorio.unifesp.br/handle/11600/5267
dc.identifier.dark.fl_str_mv ark:/48912/001300002b5gm
url http://dx.doi.org/10.1590/S0004-27492009000500019
http://repositorio.unifesp.br/handle/11600/5267
identifier_str_mv Arquivos Brasileiros de Oftalmologia. Conselho Brasileiro de Oftalmologia, v. 72, n. 5, p. 694-696, 2009.
10.1590/S0004-27492009000500019
S0004-27492009000500019.pdf
0004-2749
S0004-27492009000500019
ark:/48912/001300002b5gm
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Arquivos Brasileiros de Oftalmologia
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 694-696
application/pdf
dc.publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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score 15,301603

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