title: [Ophthalmological manifestations in Fabry's disease. Four clinical cases showing deficient alpha-galactosidase-A activity].
abstract: METHODS
  Fabry's disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view.
  
  
  CONCLUSIONS
  Fabry's disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabry's disease do not present ocular affectation, while, on the other hand, healthy carriers with important ocular alterations have been described. The deposit of glycosphingolipids produces affectation at the corneal, crystalline, vascular and retinal levels. The vascular alterations affect not only the veins but also the arteries, as we report in our patients.
authors.affiliation: Hospital Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain. mariaelenargh@hotmail.com
authors.forename: M E
authors.initials: ME
authors.lastname: Rodríguez-González-Herrero
authors.forename: J M
authors.initials: JM
authors.lastname: Marín-Sánchez
authors.forename: J R
authors.initials: JR
authors.lastname: Gimeno
authors.forename: C
authors.initials: C
authors.lastname: Molero-Izquierdo
authors.forename: A
authors.initials: A
authors.lastname: De-Casas-Fernández
authors.forename: B
authors.initials: B
authors.lastname: Rodríguez-González-Herrero
authors.forename: I
authors.initials: I
authors.lastname: San-Román
authors.forename: J
authors.initials: J
authors.lastname: Lozano
authors.forename: G
authors.initials: G
authors.lastname: De-la-Morena
authors.forename: F
authors.initials: F
authors.lastname: Llovet-Osuna
mesh_terms: D000368:Aged; D002240:Carbohydrate Sequence; D002386:Cataract / Q000209:etiology; D003229:Conjunctival Diseases / Q000209:etiology; D003316:Corneal Diseases / Q000209:etiology; D003941:Diagnostic Techniques, Ophthalmological; D005128:Eye Diseases / Q000175:diagnosis / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D006028:Glycosphingolipids / Q000032:analysis / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D012171:Retinal Vessels / Q000378:metabolism / Q000473:pathology; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D006028:Glycosphingolipids; D000519:alpha-Galactosidase