École d'optométrie, Université de Montréal, Montréal, Québec, Canada.
PLoS One. 2019 Jun 27;14(6):e0213329. doi: 10.1371/journal.pone.0213329. eCollection 2019.
This study aims to assess the evolution of ocular manifestations in a cohort of Fabry patients.
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).
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).
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.
本研究旨在评估法布里病患者队列中眼部表现的演变。
这是一项从 2013 年到 2017 年进行的前瞻性观察研究（连续 5 次检查）。所有受试者均接受全面的眼部检查，包括定向病史、屈光、角膜地形图、生物力学角膜特性和眼压计评估、像差、前段评估、双频视野（FDT）、眼压和眼部眼底。在基线时，有 41 名受试者入组，但 9 名受试者退出，4 份档案未保留用于分析（数据缺失）。其余 28 名受试者分为：组 1 - 半合子（HMZ），均接受酶替代疗法（ERT）（N = 10）；组 2 - 杂合子（HTZ）积极接受 ERT 治疗（N = 8），组 3 - HTZ 未治疗（N = 10）。
存在较高的个体内和个体间变异性。在基线时，发现的眼部表现的患病率与已发表的数据相似：角膜垂直性（89.2%）、结膜血管扭曲（85.7%）、角膜混浊（67.8%）、视网膜血管扭曲（64.2%）、前白内障（39.2%）和后白内障（28.5%）。发现新的元素：上眼睑血管扭曲（96.4%）和微动脉瘤（42.8%）。最后，尽管有 68%的患者接受了 ERT，但微动脉瘤（+82%）、后白内障（+75%）、角膜混浊（+21%）、前白内障（+17%）和视网膜血管扭曲（+4%）的患病率和严重程度都有所增加。接受治疗的杂合子比其他组变化更大（p>0.05）。
ERT 似乎不能阻止几种眼部表现的临床进展。可能需要更长的观察时间和客观的分级系统来充分证实这些发现。
