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[Ophthalmic manifestations in Mexican patients with Fabry disease]
K J Beltrán-Becerra1, B E Ríos-González, B E Gutiérrez-Amavizca
1Servicio de Oftalmología, Unidad Médica de Alta Especialidad, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
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.
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