Ocular findings in Fabry disease in Colombian patients

Katherine Rothstein; Jubby M. Gálvez; Eveling Briggite Criollo Porras; Ángela M. Gutiérrez; Laura del Pilar Rico Landazabal; Alejandra de-la-Torre

doi:https://doi.org/10.7705/biomedica.3841

Ocular findings in Fabry disease in Colombian patients

Katherine Rothstein, Jubby M. Gálvez, Eveling Briggite Criollo Porras, Ángela M. Gutiérrez, Laura del Pilar Rico Landazabal, Alejandra de-la-Torre

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

Resumen

La enfermedad de Fabry es un raro trastorno ligado al cromosoma X causado por deficiencia de la enzima alfa-galactosidasa y la consiguiente y progresiva acumulación lisosómica de glucoesfingolípidos, especialmente la globotriaosilceramida, en múltiples tejidos del organismo, incluido el ojo. En este reporte se presenta la primera serie de casos de manifestaciones oculares de la enfermedad de Fabry en Colombia, resaltando la importancia de los signos oculares como ayuda para el diagnóstico temprano. Se presentan cinco casos de la enfermedad en Bogotá y se da cuenta de las historias clínicas y los exámenes oftalmológicos y de optometría, y se incluyen fotografías. En todos los pacientes se hallaron errores de refracción y se evidenció el patrón de córnea verticillata. Cuatro pacientes presentaban depósitos de color café y castaño claro en la cápsula posterior del cristalino, y cuatro tenían tortuosidad vascular conjuntival y retiniana. El examen oftalmológico completo es importante para hacer un diagnóstico oportuno con el fin de iniciar el tratamiento multidisciplinario y reducir la morbimortalidad.

Idioma original	Inglés estadounidense
Páginas (desde-hasta)	434-439
Número de páginas	6
Publicación	Biomedica
Volumen	39
N.º	3
DOI	https://doi.org/10.7705/biomedica.3841
Estado	Publicada - ene. 1 2019

Áreas temáticas de ASJC Scopus

Bioquímica, Genética y Biología Molecular General

ODS de las Naciones Unidas

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@article{a34340cc48544179be509554a4d5d58c,

title = "Ocular findings in Fabry disease in Colombian patients",

abstract = "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 Bogot{\'a}, 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.",

author = "Katherine Rothstein and G{\'a}lvez, {Jubby M.} and {Criollo Porras}, {Eveling Briggite} and Guti{\'e}rrez, {{\'A}ngela M.} and {Rico Landazabal}, {Laura del Pilar} and Alejandra de-la-Torre",

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AU - Rothstein, Katherine

AU - Gálvez, Jubby M.

AU - Criollo Porras, Eveling Briggite

AU - Gutiérrez, Ángela M.

AU - Rico Landazabal, Laura del Pilar

AU - de-la-Torre, Alejandra

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

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Ocular findings in Fabry disease in Colombian patients

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ODS de las Naciones Unidas

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