[Ophthalmic manifestations in Mexican patients with Fabry disease].
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.


OBJECTIVE
To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD.


METHODS
We studied 13 patients with clinical and biochemical diagnostic of FD.


RESULTS
Cornea verticillata was found in 57% of men and 33% carriers.


CONCLUSIONS
Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico.
Servicio de Oftalmología, Unidad Médica de Alta Especialidad, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
K J
KJ
Beltrán-Becerra
B E
BE
Ríos-González
B E
BE
Gutiérrez-Amavizca
D A
DA
Silva-Noriega
L E
LE
Figuera
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000453:epidemiology / Q000209:etiology; D003229:Conjunctival Diseases / Q000453:epidemiology / Q000209:etiology; D003318:Corneal Opacity / Q000453:epidemiology / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications* / Q000453:epidemiology; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D008800:Mexico / Q000453:epidemiology; D008875:Middle Aged; D012171:Retinal Vessels / Q000002:abnormalities; D055815:Young Adult