Cataract surgery in Knobloch syndrome : a case report

Detalhes bibliográficos
Autor(a) principal: Bongiovanni, Carmen Sílvia
Data de Publicação: 2011
Outros Autores: Ferreira, Carla Cristina Serra, Rodrigues, Ana Paula Silvério, Fortes Filho, João Borges, Tartarella, Marcia Beatriz
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/181765
Resumo: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.
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spelling Bongiovanni, Carmen SílviaFerreira, Carla Cristina SerraRodrigues, Ana Paula SilvérioFortes Filho, João BorgesTartarella, Marcia Beatriz2018-09-11T02:28:42Z20111177-5483http://hdl.handle.net/10183/181765000878939Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.application/pdfengClinical ophthalmology. Auckland. Vol. 5 (2011), p. 735-737CatarataFacoemulsificaçãoCorpo vítreoOlhoGenéticaKnobloch syndromeCataractPhacoemulsificationVitreousRight eyeLeft eyeGeneticCataract surgery in Knobloch syndrome : a case reportEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000878939.pdfTexto completo (inglês)application/pdf574832http://www.lume.ufrgs.br/bitstream/10183/181765/1/000878939.pdf514f471520cd36dbffc1b56fee27efa6MD51TEXT000878939.pdf.txt000878939.pdf.txtExtracted Texttext/plain10563http://www.lume.ufrgs.br/bitstream/10183/181765/2/000878939.pdf.txt6969183178ffbdfd3afb66e6365f60d0MD52THUMBNAIL000878939.pdf.jpg000878939.pdf.jpgGenerated Thumbnailimage/jpeg1821http://www.lume.ufrgs.br/bitstream/10183/181765/3/000878939.pdf.jpg90bc8bf6d392c203dc1d128794d8b1e6MD5310183/1817652018-10-05 07:47:22.015oai:www.lume.ufrgs.br:10183/181765Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2018-10-05T10:47:22Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Cataract surgery in Knobloch syndrome : a case report
title Cataract surgery in Knobloch syndrome : a case report
spellingShingle Cataract surgery in Knobloch syndrome : a case report
Bongiovanni, Carmen Sílvia
Catarata
Facoemulsificação
Corpo vítreo
Olho
Genética
Knobloch syndrome
Cataract
Phacoemulsification
Vitreous
Right eye
Left eye
Genetic
title_short Cataract surgery in Knobloch syndrome : a case report
title_full Cataract surgery in Knobloch syndrome : a case report
title_fullStr Cataract surgery in Knobloch syndrome : a case report
title_full_unstemmed Cataract surgery in Knobloch syndrome : a case report
title_sort Cataract surgery in Knobloch syndrome : a case report
author Bongiovanni, Carmen Sílvia
author_facet Bongiovanni, Carmen Sílvia
Ferreira, Carla Cristina Serra
Rodrigues, Ana Paula Silvério
Fortes Filho, João Borges
Tartarella, Marcia Beatriz
author_role author
author2 Ferreira, Carla Cristina Serra
Rodrigues, Ana Paula Silvério
Fortes Filho, João Borges
Tartarella, Marcia Beatriz
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Bongiovanni, Carmen Sílvia
Ferreira, Carla Cristina Serra
Rodrigues, Ana Paula Silvério
Fortes Filho, João Borges
Tartarella, Marcia Beatriz
dc.subject.por.fl_str_mv Catarata
Facoemulsificação
Corpo vítreo
Olho
Genética
topic Catarata
Facoemulsificação
Corpo vítreo
Olho
Genética
Knobloch syndrome
Cataract
Phacoemulsification
Vitreous
Right eye
Left eye
Genetic
dc.subject.eng.fl_str_mv Knobloch syndrome
Cataract
Phacoemulsification
Vitreous
Right eye
Left eye
Genetic
description Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.
publishDate 2011
dc.date.issued.fl_str_mv 2011
dc.date.accessioned.fl_str_mv 2018-09-11T02:28:42Z
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dc.identifier.issn.pt_BR.fl_str_mv 1177-5483
dc.identifier.nrb.pt_BR.fl_str_mv 000878939
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dc.relation.ispartof.pt_BR.fl_str_mv Clinical ophthalmology. Auckland. Vol. 5 (2011), p. 735-737
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