dc.contributor.author | Michaud, Langis | |
dc.date.accessioned | 2021-01-28T16:05:23Z | |
dc.date.available | NO_RESTRICTION | fr |
dc.date.available | 2021-01-28T16:05:23Z | |
dc.date.issued | 2019-06-27 | |
dc.identifier.uri | http://hdl.handle.net/1866/24588 | |
dc.publisher | Public library of science | fr |
dc.rights | Ce document est mis à disposition selon les termes de la Licence Creative Commons Paternité 4.0 International. / This work is licensed under a Creative Commons Attribution 4.0 International License. | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Longitudinal study on ocular manifestations in a cohort of patients with Fabry disease | fr |
dc.type | Article | fr |
dc.contributor.affiliation | Université de Montréal. École d'optométrie | fr |
dc.identifier.doi | 10.1371/journal.pone.0213329 | |
dcterms.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 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. | fr |
dcterms.isPartOf | urn:ISSN:1932-6203 | fr |
dcterms.language | eng | fr |
UdeM.ReferenceFournieParDeposant | 10.1371/journal.pone.0213329. eCollection 2019. | fr |
UdeM.VersionRioxx | Version publiée / Version of Record | fr |
oaire.citationTitle | PLoS one | fr |
oaire.citationVolume | 14 | fr |
oaire.citationIssue | 6 | fr |