Abstract
PurposeThis 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 seem to halt the clinical evolution of several ocular manifestations. Longer observational time and objective grading systems may be required to fully confirm these findings.
Highlights
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%)
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 enzyme replacement therapy (ERT)
ERT does not seem to halt the clinical evolution of several ocular manifestations
Summary
Fabry is qualified as a pan ethnic X-linked inherited condition and is considered a rare disease [1]; it represents the second most prevalent of the 50 known lysosomal storage disorders[2], which are all characterized by a cell deposit of a substrate, within lysosomes, as a result of abnormal enzymatic activity. The substrate continues to build-up, cellular dysfunction will trigger organ impairment and eventually system damages, leading to substantial morbidity and reduced life expectancy[4], especially for patients left untreated[5]. Patients can be categorized into 4 groups[6], varying from an absent or non-functional enzyme protein (null alleles), with severe manifestations, to a group of subjects characterized with some enzymatic residual activities, and associated with an attenuated phenotype. Asymptomatic subjects were only considered carriers of the disease[7], but must be considered true Fabry patients[8]
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