Ocular findings in Fabry disease in Colombian patients

Katherine Rothstein, Jubby M. Gálvez, ángela M. Gutiérrez, Laura Rico, Eveling Criollo, Alejandra de-la-Torre

Producción científica: Contribución a una revistaArtículo de Investigaciónrevisión exhaustiva

3 Citas (Scopus)

Resumen

Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal 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 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.

Idioma originalInglés estadounidense
Páginas (desde-hasta)434-439
Número de páginas6
PublicaciónBiomedica
Volumen39
N.º3
DOI
EstadoPublicada - 2019

Áreas temáticas de ASJC Scopus

  • Bioquímica, Genética y Biología Molecular General

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