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.
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.
Authors: Bianca Ethel Gutiérrez-Amavizca; Andreas Gal; Rocío Ortíz-Orozco; Ulrich Orth; Ernesto Prado Montes De Oca; Jaime Paul Gutiérrez-Amavizca; Luis E Figuera Journal: J Genet Date: 2017-03 Impact factor: 1.166