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Charge syndrome – Amblyopia and coloboma: a case report

dc.contributor.authorPoças, Ilda Maria
dc.contributor.authorLino, Pedro Miguel
dc.date.accessioned2019-10-01T12:02:49Z
dc.date.available2019-10-01T12:02:49Z
dc.date.issued2019-06
dc.description.abstractCharge 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPoças I. Lino PM. Charge syndrome – Amblyopia and coloboma: a case report. In: 40th Meeting of the European Strabismological Association, Helsinki (Finland), June 5-8, 2019.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/10532
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttp://esa2019.org/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectOrthopticspt_PT
dc.subjectCharge syndromept_PT
dc.subjectAmblyopiapt_PT
dc.subjectColobomapt_PT
dc.subjectGenetic disorderpt_PT
dc.titleCharge syndrome – Amblyopia and coloboma: a case reportpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceHelsínquiapt_PT
person.familyNamePoças
person.givenNameIlda Maria
person.identifier.ciencia-id1E1A-86A4-BC50
person.identifier.orcid0000-0002-1695-3231
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublicationced35a9f-848a-49c9-91dc-f60f679f149f
relation.isAuthorOfPublication.latestForDiscoveryced35a9f-848a-49c9-91dc-f60f679f149f

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