[Ophthalmic manifestations in Mexican patients with Fabry disease]

Abstract

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.