Phenotypic expression variability in Best Disease: a purpose of a series of cases

Detalhes bibliográficos
Autor(a) principal: Marcos,Alléxya Affonso Antunes
Data de Publicação: 2018
Outros Autores: Barros,Gabriela dos Santos Souza, Moraes,Gabriella Nogueira, Leite,Eduardo Henrique Morizot
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Revista Brasileira de Oftalmologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802018000200102
Resumo: Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.
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spelling Phenotypic expression variability in Best Disease: a purpose of a series of casesVitelliform macular dystrhohy/geneticsElectrodiagnosisElectrophysiologyPhenotypicCase reportsAbstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.Sociedade Brasileira de Oftalmologia2018-04-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802018000200102Revista Brasileira de Oftalmologia v.77 n.2 2018reponame:Revista Brasileira de Oftalmologia (Online)instname:Sociedade Brasileira de Oftalmologia (SBO)instacron:SBO10.5935/0034-7280.20180023info:eu-repo/semantics/openAccessMarcos,Alléxya Affonso AntunesBarros,Gabriela dos Santos SouzaMoraes,Gabriella NogueiraLeite,Eduardo Henrique Morizoteng2019-10-31T00:00:00Zoai:scielo:S0034-72802018000200102Revistahttps://rbo.emnuvens.com.br/rbo/indexhttps://old.scielo.br/oai/scielo-oai.phpsob@sboportal.org.br||rbo@sboportal.org.br1982-85510034-7280opendoar:2019-10-31T00:00Revista Brasileira de Oftalmologia (Online) - Sociedade Brasileira de Oftalmologia (SBO)false
dc.title.none.fl_str_mv Phenotypic expression variability in Best Disease: a purpose of a series of cases
title Phenotypic expression variability in Best Disease: a purpose of a series of cases
spellingShingle Phenotypic expression variability in Best Disease: a purpose of a series of cases
Marcos,Alléxya Affonso Antunes
Vitelliform macular dystrhohy/genetics
Electrodiagnosis
Electrophysiology
Phenotypic
Case reports
title_short Phenotypic expression variability in Best Disease: a purpose of a series of cases
title_full Phenotypic expression variability in Best Disease: a purpose of a series of cases
title_fullStr Phenotypic expression variability in Best Disease: a purpose of a series of cases
title_full_unstemmed Phenotypic expression variability in Best Disease: a purpose of a series of cases
title_sort Phenotypic expression variability in Best Disease: a purpose of a series of cases
author Marcos,Alléxya Affonso Antunes
author_facet Marcos,Alléxya Affonso Antunes
Barros,Gabriela dos Santos Souza
Moraes,Gabriella Nogueira
Leite,Eduardo Henrique Morizot
author_role author
author2 Barros,Gabriela dos Santos Souza
Moraes,Gabriella Nogueira
Leite,Eduardo Henrique Morizot
author2_role author
author
author
dc.contributor.author.fl_str_mv Marcos,Alléxya Affonso Antunes
Barros,Gabriela dos Santos Souza
Moraes,Gabriella Nogueira
Leite,Eduardo Henrique Morizot
dc.subject.por.fl_str_mv Vitelliform macular dystrhohy/genetics
Electrodiagnosis
Electrophysiology
Phenotypic
Case reports
topic Vitelliform macular dystrhohy/genetics
Electrodiagnosis
Electrophysiology
Phenotypic
Case reports
description Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.
publishDate 2018
dc.date.none.fl_str_mv 2018-04-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802018000200102
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802018000200102
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/0034-7280.20180023
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 Sociedade Brasileira de Oftalmologia
publisher.none.fl_str_mv Sociedade Brasileira de Oftalmologia
dc.source.none.fl_str_mv Revista Brasileira de Oftalmologia v.77 n.2 2018
reponame:Revista Brasileira de Oftalmologia (Online)
instname:Sociedade Brasileira de Oftalmologia (SBO)
instacron:SBO
instname_str Sociedade Brasileira de Oftalmologia (SBO)
instacron_str SBO
institution SBO
reponame_str Revista Brasileira de Oftalmologia (Online)
collection Revista Brasileira de Oftalmologia (Online)
repository.name.fl_str_mv Revista Brasileira de Oftalmologia (Online) - Sociedade Brasileira de Oftalmologia (SBO)
repository.mail.fl_str_mv sob@sboportal.org.br||rbo@sboportal.org.br
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