Charge syndrome – Amblyopia and coloboma: a case report

Detalhes bibliográficos
Autor(a) principal: Poças, Ilda Maria
Data de Publicação: 2019
Outros Autores: Lino, Pedro Miguel
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: http://hdl.handle.net/10400.21/10532
Resumo: Charge sýndrome is caused by a genetic disorder, with different associated anomalies is a recognizable pattern of congenital malformations. Coloboma, one of the developmental anomalies, is characterized by a poor closure of the embryonary fissure, which can affect the eye different structures. The association with systemic pathology makes the ophthalmologic diagnosis essential for patients' multidisciplinary orientation. From an ophthalmological point of view, patients may present with coloboma associated with other changes, namely strabismus, and nystagmus, and with amblyopia and variable visual acuity.
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spelling Charge syndrome – Amblyopia and coloboma: a case reportOrthopticsCharge syndromeAmblyopiaColobomaGenetic disorderCharge sýndrome is caused by a genetic disorder, with different associated anomalies is a recognizable pattern of congenital malformations. Coloboma, one of the developmental anomalies, is characterized by a poor closure of the embryonary fissure, which can affect the eye different structures. The association with systemic pathology makes the ophthalmologic diagnosis essential for patients' multidisciplinary orientation. From an ophthalmological point of view, patients may present with coloboma associated with other changes, namely strabismus, and nystagmus, and with amblyopia and variable visual acuity.RCIPLPoças, Ilda MariaLino, Pedro Miguel2019-10-01T12:02:49Z2019-062019-06-01T00:00:00Zconference objectinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10400.21/10532enginfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-12T08:35:40Zoai:repositorio.ipl.pt:10400.21/10532Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T19:56:45.868368Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Charge syndrome – Amblyopia and coloboma: a case report
title Charge syndrome – Amblyopia and coloboma: a case report
spellingShingle Charge syndrome – Amblyopia and coloboma: a case report
Poças, Ilda Maria
Orthoptics
Charge syndrome
Amblyopia
Coloboma
Genetic disorder
title_short Charge syndrome – Amblyopia and coloboma: a case report
title_full Charge syndrome – Amblyopia and coloboma: a case report
title_fullStr Charge syndrome – Amblyopia and coloboma: a case report
title_full_unstemmed Charge syndrome – Amblyopia and coloboma: a case report
title_sort Charge syndrome – Amblyopia and coloboma: a case report
author Poças, Ilda Maria
author_facet Poças, Ilda Maria
Lino, Pedro Miguel
author_role author
author2 Lino, Pedro Miguel
author2_role author
dc.contributor.none.fl_str_mv RCIPL
dc.contributor.author.fl_str_mv Poças, Ilda Maria
Lino, Pedro Miguel
dc.subject.por.fl_str_mv Orthoptics
Charge syndrome
Amblyopia
Coloboma
Genetic disorder
topic Orthoptics
Charge syndrome
Amblyopia
Coloboma
Genetic disorder
description Charge sýndrome is caused by a genetic disorder, with different associated anomalies is a recognizable pattern of congenital malformations. Coloboma, one of the developmental anomalies, is characterized by a poor closure of the embryonary fissure, which can affect the eye different structures. The association with systemic pathology makes the ophthalmologic diagnosis essential for patients' multidisciplinary orientation. From an ophthalmological point of view, patients may present with coloboma associated with other changes, namely strabismus, and nystagmus, and with amblyopia and variable visual acuity.
publishDate 2019
dc.date.none.fl_str_mv 2019-10-01T12:02:49Z
2019-06
2019-06-01T00:00:00Z
dc.type.driver.fl_str_mv conference object
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.21/10532
url http://hdl.handle.net/10400.21/10532
dc.language.iso.fl_str_mv eng
language eng
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eu_rights_str_mv openAccess
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application/pdf
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
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repository.mail.fl_str_mv info@rcaap.pt
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