Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of fabry disease patients

Abstract

Background: Fabry disease is an X-linked disorder due to a deficiency of α-galactosidase A and leads to the accumulation of globotriaosylceramide (Gb3) in various cells. The detection of Gb3 deposits may help in the diagnosis. To date, no immunofluorescence-specific detection of Gb3 in conjunctival biopsies has been reported. The aim of this work was to detect Gb3 accumulation in conjunctival biopsies from Fabry patients by immunofluorescence. Methods: Conjunctival biopsies taken from Fabry males and females, before and after enzyme replacement therapy, and normal controls were processed for immunofluorescence with a monoclonal antibody specific for Gb3. Results: Positive green immunofluorescence was observed in all biopsies from Fabry patients before enzyme replacement therapy. After 6 months of treatment, immunofluorescence in blood vessels was not observed. Conclusions: Immunofluorescence detection of Gb3 in conjunctival biopsies may be a reliable method for the diagnosis of Fabry disease in family members, and to evaluate effectiveness of enzyme replacement therapy. © 2006 Royal Australian and New Zealand College of Ophthalmologists.