Abstract

BELTRAN-BECERRA, K.J. et al. Ophthalmic manifestations in Mexican patients with Fabry disease. Arch Soc Esp Oftalmol [online]. 2012, vol.87, n.11, pp.373-375. ISSN 0365-6691.  https://dx.doi.org/10.1016/j.oftal.2011.09.008.

Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. Aim: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. Material and methods: We studied 13 patients with clinical and biochemical diagnostic of FD. Results: Cornea verticillata was found in 57% of men and 33% carriers. Conclusion: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico.

Keywords : Fabry disease; Lysosomal storage; Carrier; Cornea verticillata; Cataracts.

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