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

Fabry 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 Colom...

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Autores Principales: Rothstein K., Gálvez J.M., Gutiérrez Á.M., Rico L., Criollo E., de-la-Torre, Alejandra
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Instituto Nacional de Salud 2019
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/23548
https://doi.org/10.7705/biomedica.v39i3.3841
id ir-10336-23548
recordtype dspace
spelling ir-10336-235482022-05-02T12:37:15Z Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease Rothstein K. Gálvez J.M. Gutiérrez Á.M. Rico L. Criollo E. de-la-Torre, Alejandra Alpha-Galactosidase Corneal opacity Crystalline Fabry disease Lens capsule Lysosomal storage diseases Retinal vessels Fabry 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. 2019 2020-05-26T00:02:59Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion https://repository.urosario.edu.co/handle/10336/23548 https://doi.org/10.7705/biomedica.v39i3.3841 eng info:eu-repo/semantics/openAccess application/pdf Instituto Nacional de Salud instname:Universidad del Rosario
institution EdocUR - Universidad del Rosario
collection DSpace
language Inglés (English)
topic Alpha-Galactosidase
Corneal opacity
Crystalline
Fabry disease
Lens capsule
Lysosomal storage diseases
Retinal vessels
spellingShingle Alpha-Galactosidase
Corneal opacity
Crystalline
Fabry disease
Lens capsule
Lysosomal storage diseases
Retinal vessels
Rothstein K.
Gálvez J.M.
Gutiérrez Á.M.
Rico L.
Criollo E.
de-la-Torre, Alejandra
Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease
description Fabry 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.
format Artículo (Article)
author Rothstein K.
Gálvez J.M.
Gutiérrez Á.M.
Rico L.
Criollo E.
de-la-Torre, Alejandra
author_facet Rothstein K.
Gálvez J.M.
Gutiérrez Á.M.
Rico L.
Criollo E.
de-la-Torre, Alejandra
author_sort Rothstein K.
title Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease
title_short Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease
title_full Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease
title_fullStr Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease
title_full_unstemmed Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease
title_sort ocular findings in colombian patients affected with fabry disease manifestaciones oculares de enfermedad de fabry en pacientes colombianos ocular findings in fabry disease
publisher Instituto Nacional de Salud
publishDate 2019
url https://repository.urosario.edu.co/handle/10336/23548
https://doi.org/10.7705/biomedica.v39i3.3841
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