Alexandros Ioannidis, Andrew Talbot, Andrew Symons, Kathleen Nicholls
Purpose: To report the prevalence of ophthalmic manifestations in Anderson-Fabry Disease (ADF) in the Fabry Outcome Survey (FOS).
Ophthalmic manifestations in ADF are common and involve various ocular structures. These manifesta- tions are clinically important because they can act as a marker of the disease, with diagnostic and prog- nostic implications. The study of the ocular abnor- malities is a useful tool to monitor the natural history of the disease and potentially the response to Enzyme Replacement Therapy (ERT).
Methods: The Fabry Outcome Survey (FOS) consti- tutes a live online database for all patients with Anderson-Fabry disease who are receiving, or are candidates for ERT with agalsidase alfa. Since its inception in 2001 FOS has grown to include a total of 24 countries represented in its registry in 2016, with 22 countries actively participating.
All international participating centres have access to the on-line examination form and picture atlas. The atlas acts both as an aid memoir but also as a means to facilitate classiftcation of the ocular features.
Results: 2962 patients are enrolled in FOS ( as of 1 June 2016)
Cornea verticillata 76.9% of females
73.1% of males Fabry cataract 9.8%of females 23.1%of males. Vessel tortuosity
21.9 % of females
48.7 % of males
Conclusion: Cornea verticillata is the most fre- quently recorded ophthalmic abnormality in Anderson-Fabry disease in both hemizygous males and heterozygous females. Vessel tortuosity is more frequently observed in patients with greater impair- ment of renal and cardiac function, suggesting that it may be associated with more severe disease.