RESUMO

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.

Assuntos

Opacidade da Córnea/etiologia , Doença de Fabry/complicações , Adolescente , Adulto , Catarata/epidemiologia , Catarata/etiologia , Doenças da Túnica Conjuntiva/epidemiologia , Doenças da Túnica Conjuntiva/etiologia , Opacidade da Córnea/epidemiologia , Doença de Fabry/epidemiologia , Feminino , Genótipo , Humanos , Incidência , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Vasos Retinianos/anormalidades , Adulto Jovem