Abstract

ROTHSTEIN, Katherine et al. Ocular findings in Fabry disease in Colombian patients. Biomédica [online]. 2019, vol.39, n.3, pp.434-439.  Epub Sep 30, 2019. ISSN 0120-4157.  https://doi.org/10.7705/biomedica.3841.

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.

Keywords : Fabry disease; alpha-Galactosidase; lysosomal storage diseases; corneal opacity; retinal vessels; lens capsule, crystalline..

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