Ophthalmological manifestations in Fabry's disease. Four clinical cases showing deficient alpha-galactosidase-A activity;Manifestaciones oftalmológicas en la enfermedad de fabry. A propósito de 4 casos con actividad deficiente de a-galactosidasa A

Archivos de la Sociedad Espanola de Oftalmologia

Volumn 83, Issue 12, 2008, Pages 713-718

  Rodriguez Gonzalez Herrero, Ma Elena ^a,b   Marin sanchez J M ^a   Gimeno, J R ^a   Molero Izquierdo, C ^a   De Casas Fernandez A ^a   Rodriguez Gonzalez Herrero B ^a   San Roman I ^a   Lozano, J ^a   De La Morena, G ^a   Llovet Osuna, F ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^b Edificio Avenida   (Spain)

Author keywords

Alpha galactosidase A; Fabry's disease; Vasculopathy

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

AGED; ARTICLE; CARBOHYDRATE ANALYSIS; CASE REPORT; CATARACT; CONJUNCTIVA DISEASE; CORNEA DISEASE; ENZYMOLOGY; EYE DISEASE; FABRY DISEASE; GENETICS; HUMAN; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; RETINA BLOOD VESSEL; VISUAL SYSTEM EXAMINATION;

AGED; ALPHA-GALACTOSIDASE; CARBOHYDRATE SEQUENCE; CATARACT; CONJUNCTIVAL DISEASES; CORNEAL DISEASES; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; EYE DISEASES; FABRY DISEASE; GLYCOSPHINGOLIPIDS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; RETINAL VESSELS;

EID: 59349101072     PISSN: 03656691     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Iester M, Sodi A, Ocella C, Vittone P. Ocular finding in Fabry's disease. Contrib Nephrol 2001; 136: 260-262.
2. Orssaud C, Dufier J, Germain D. Ocular manifestations in fabry disease: a survey of 32 hemizygous male patients. Ophthalmic Genet 2003; 24: 129-139.
3. Dichgans M. A new cause of hereditary small vessel disease. Angiopathy of retina and brain. Neurology 2003; 60: 8-9.
4. Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Craford A. Ophthalmological manifestations of fabry disease: a survey of patiens at the Royal Melbourne Fabry disease treatment centre. Clin Exp Ophthalmol 2005; 33: 164-168.
5. Sodi A, Ioannidis A, Mehta A, Davey C, Beck M, Pitz S. Ocular manifestations of Fabry disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91: 210-214.