Ocular signs correlate well with disease severity and genotype in Fabry disease.

Abstract excerpt

Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone ophthalmological...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Child
• Share to Cornea