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Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease

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dc.creatorRothstein K.spa
dc.creatorGálvez J.M.spa
dc.creatorGutiérrez Á.M.spa
dc.creatorRico L.spa
dc.creatorCriollo E.spa
dc.creatorde-la-Torre, Alejandraspa
dc.date.accessioned2020-05-26T00:02:59Z
dc.date.available2020-05-26T00:02:59Z
dc.date.created2019spa
dc.description.abstractFabry disease is a rare X-linked disorder caused by alpha-galactosidase enzyme deficiency, which leads to a progressive lisosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Colombian report of Fabry Disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment in order to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits, and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality. © 2019, Instituto Nacional de Salud.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.7705/biomedica.v39i3.3841
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23548
dc.language.isoengspa
dc.publisherInstituto Nacional de Saludspa
dc.relation.citationEndPage15
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage1
dc.relation.citationTitleBiomedica
dc.relation.citationVolumeVol. 39
dc.relation.ispartofBiomedica, Vol.39, No.3 (2019); pp. 1-15spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85067593635&doi=10.7705%2fbiomedica.v39i3.3841&partnerID=40&md5=d95ba3d99e2c4452209176dfe639209fspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAlpha-Galactosidasespa
dc.subject.keywordCorneal opacityspa
dc.subject.keywordCrystallinespa
dc.subject.keywordFabry diseasespa
dc.subject.keywordLens capsulespa
dc.subject.keywordLysosomal storage diseasesspa
dc.subject.keywordRetinal vesselsspa
dc.titleOcular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry diseasespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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