Importance de l'examen ophtalmologique dans le diagnostic des patients atteints de maladie d'Anderson-Fabry et dans la détection des porteurs sains

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.