[Ophthalmic manifestations in Mexican patients with Fabry disease].

UNLABELLED: 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.