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

Detalhes bibliográficos
Autor(a) principal: Andrade,Luis Jesuino de Oliveira
Data de Publicação: 2009
Outros Autores: Andrade,Rafael, França,Caroline Santos, Bittencourt,Alcina Vinhaes
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos brasileiros de oftalmologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000500019
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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spelling Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature reviewBardet-Biedl syndromeRetinitis pigmentosaRetinal degenerationHumanFemaleAdolescentCase reportsBardet-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.Conselho Brasileiro de Oftalmologia2009-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000500019Arquivos Brasileiros de Oftalmologia v.72 n.5 2009reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.1590/S0004-27492009000500019info:eu-repo/semantics/openAccessAndrade,Luis Jesuino de OliveiraAndrade,RafaelFrança,Caroline SantosBittencourt,Alcina Vinhaeseng2009-12-15T00:00:00Zoai:scielo:S0004-27492009000500019Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2009-12-15T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false
dc.title.none.fl_str_mv Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
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
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
author Andrade,Luis Jesuino de Oliveira
author_facet Andrade,Luis Jesuino de Oliveira
Andrade,Rafael
França,Caroline Santos
Bittencourt,Alcina Vinhaes
author_role author
author2 Andrade,Rafael
França,Caroline Santos
Bittencourt,Alcina Vinhaes
author2_role author
author
author
dc.contributor.author.fl_str_mv Andrade,Luis Jesuino de Oliveira
Andrade,Rafael
França,Caroline Santos
Bittencourt,Alcina Vinhaes
dc.subject.por.fl_str_mv Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal degeneration
Human
Female
Adolescent
Case reports
topic Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal degeneration
Human
Female
Adolescent
Case reports
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
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://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000500019
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000500019
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27492009000500019
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
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 Arquivos Brasileiros de Oftalmologia v.72 n.5 2009
reponame:Arquivos brasileiros de oftalmologia (Online)
instname:Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
instname_str Conselho Brasileiro de Oftalmologia (CBO)
instacron_str CBO
institution CBO
reponame_str Arquivos brasileiros de oftalmologia (Online)
collection Arquivos brasileiros de oftalmologia (Online)
repository.name.fl_str_mv Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)
repository.mail.fl_str_mv aboonline@cbo.com.br||abo@cbo.com.br
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