Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients.

BACKGROUND

Fabry disease is an X-linked disorder due to a deficiency of alpha-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.