title: [Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection].
abstract: A 45-year-old man with Fabry's disease is presented. 27 relatives are examined. Among the different examinations (serum activity of alpha-galactosidase, urinary excretion of trihexosyl ceramide, renal function, ocular examination) ocular examination remains the easiest and cheapest test for detection of heterozygotes. The ocular manifestations of this enzymatic defect are reviewed.
authors.affiliation: Hôpital ophtalmique Jules Gonin, Lausanne.
authors.forename: E H
authors.initials: EH
authors.lastname: Bovey
authors.forename: F
authors.initials: F
authors.lastname: Saurer
mesh_terms: D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D012729:Sex Chromosome Aberrations; D014787:Vision Tests; D014960:X Chromosome
vernacular_title: Importance de l'examen ophtalmologique dans le diagnostic des patients atteints de maladie d'Anderson-Fabry et dans la détection des porteurs sains.