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• W2917042103 abstract "ABSTRACT Purpose This study aims to assess the evolution of ocular manifestations in a cohort of Fabry patients. METHODS This is a prospective observational study conducted from 2013 to 2017 (5 consecutive exams). All subjects underwent a comprehensive ocular examination including oriented case history, refraction, corneal topography, biomechanical corneal properties and pachometry assessments, aberrometry, anterior segment evaluation, double-frequency visual field (FDT), intra-ocular pressure, and ocular fundus. At baseline, 41 subjects enrolled but 9 dropped-out and 4 files were not kept for analysis (missing data). Remaining 28 subjects were classified into: Group 1 -hemizygotes (HMZ), all on enzyme replacement therapy (ERT) (N=10); Group 2 -heterozygotes (HTZ) actively ERT-treated (N=8), and Group 3 -HTZ not treated (N=10). RESULTS There is a high intra and inter-subjects variability. At baseline, prevalence of the ocular manifestations found is similar to published data: cornea verticillata (89.2%), conjunctival vessels tortuosity (85.7%), corneal haze (67.8%), retinal vessels tortuosity (64.2%), anterior cataract (39.2%) and posterior cataract (28.5%). Prevalence for new elements are found: upper lid vessels toricity (96.4%) and micro-aneurysms (42.8%). At the end, micro-aneurysms (+82%), posterior cataract (+75%) corneal haze (+21%) anterior cataract (+17%) and retinal vessels tortuosities (+4%) evolved in prevalence and severity despite the fact that 68% of the patients were on ERT. Treated heterozygotes evolved more than other groups (p>0.05) CONCLUSION ERT does not halt the clinical evolution of several ocular manifestations. Longer observational time may be required to fully confirm these findings." @default.
• W2917042103 created "2019-03-02" @default.
• W2917042103 creator A5017114297 @default.
• W2917042103 date "2019-02-21" @default.
• W2917042103 modified "2023-10-03" @default.
• W2917042103 title "Longitudinal Study on Ocular Manifestations in a Cohort of Patients with Fabry Disease" @default.
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• W2917042103 doi "https://doi.org/10.1101/557207" @default.
• W2917042103 hasPublicationYear "2019" @default.
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