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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Instituto Nacional de Salud
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Acceso en línea: | https://repository.urosario.edu.co/handle/10336/23548 https://doi.org/10.7705/biomedica.v39i3.3841 |
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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 |
_version_ |
1740172987475165184 |
score |
12,131701 |