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Biomedical subjects

Roberto Ebner

Publications and source records attributed to Roberto Ebner.

3 recordsLinked to original sources

Dysthyroid optic neuropathy (DON).

Dysthyroid Optic Neuropathy (DON) affects a small percentage of patients with Graves disease, but, when it occurs, it can cause significant and permanent loss of vision. DON is treatable if recognized early. Systemic steroids can be effective, but may cause side affects. Orbital injection of steroids may play a role in selected patients. Orbital radiation has a more permanent effect and has gained wide acceptance as a relatively non-invasive method of reversing DON. Surgery to decompress crowded orbits has been used for years and continues to be a viable approach for those patients with optic neuropathy, especially when there is significant proptosis. Optic nerve decompression can also be achieved through a transethmoidal approach.

Decompression, Surgical↗

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.

Adolescent↗