Article

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

2026-08-19

Abstract excerpt

<title>Abstract</title> <p>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 replacement therapy (ERT) or pharmacological chaperone therapy (PCT). Methods This retrospective observational study inc...

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Literature Corpus work: 5eee0305-288f-5933-9b2a-ec082506e078
DOI: 10.21203/rs.3.rs-10548746/v1

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