Abstract
ABSTRACTPurposeThis study aims to assess the evolution of ocular manifestations in a cohort of Fabry patients.METHODSThis 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).RESULTSThere 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)CONCLUSIONERT does not halt the clinical evolution of several ocular manifestations. Longer observational time may be required to fully confirm these findings.
Publisher
Cold Spring Harbor Laboratory
Reference81 articles.
1. Fuller M , Meikle PJ , Hopwood JJ . Epidemiology of lysosomal storage diseases: an overview. In: Mehta A , Beck M , Sunder-Plassmann G , editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006.
2. Fabry's disease
3. A Review of Fabry Disease;Skin Therapy Lett.,2018
4. The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels
5. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males