[Ophthalmic manifestations in Mexican patients with Fabry disease].
نویسندگان
چکیده
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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عنوان ژورنال:
- Archivos de la Sociedad Espanola de Oftalmologia
دوره 87 11 شماره
صفحات -
تاریخ انتشار 2012