Nicole Muschol

Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy

Abstract Purpose Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A. This study describes the long-term evolution of retinal findings in genetically confirmed FD patients, who have been receiving enzyme repl...