Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Orphanet J Rare Dis. 2021 Nov 20;16(1):485. doi: 10.1186/s13023-021-02080-0.
The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with systemic disease parameters.
Automatically quantified perimacular retinal vessel tortuosity (MONA REVA software), acquired by fundus imaging, and perifoveal retinal vessel density, acquired by optic coherence tomography angiography (OCT-A) were compared between 26 FD patients and 26 controls. Gender and FD phenotype were analyzed to the obtained retinovascular data and correlated to the Mainz severity score index (MSSI) and plasma lyso-Gb3.
Automatically quantified retinal vessel tortuosity indices of FD patients were significantly lower, reflecting an increased vessel tortuosity, compared to controls (p = 0.008). Males with a classical phenotype showed significantly lower retinal vessel tortuosity indices compared to males with an oligosymptomatic phenotype and females with a classical or oligosymptomatic phenotype (p < 0.001). The retinal vessel tortuosity index correlated significantly with systemic disease severity parameters [global MSSI (r = - 0.5; p < 0.01), cardiovascular MSSI (r = - 0.5; p < 0.01), lyso-Gb3 (r = - 0.6; p < 0.01)].
We advocate fundus imaging based automatically quantified retinal vessel tortuosity index over OCT-A imaging as it is a quick, non-invasive, easily assessable, objective and reproducible marker.
本病例对照研究旨在评估从眼底图像自动量化的视网膜血管迂曲度和 OCT-A 获得的血管密度在法布里病中的预后价值，并评估这些与系统性疾病参数的相关性。
比较 26 例 FD 患者和 26 例对照的黄斑区视网膜血管迂曲度（MONA REVA 软件）和通过光学相干断层扫描血管造影（OCT-A）获得的黄斑区视网膜血管密度。分析性别和 FD 表型与获得的血管数据的关系，并与 Mainz 严重程度评分指数（MSSI）和血浆溶酶体-Gb3 相关。
FD 患者的自动量化视网膜血管迂曲度指数明显较低，反映了血管迂曲度增加，与对照组相比差异有统计学意义（p=0.008）。经典表型的男性视网膜血管迂曲度指数明显低于寡症状表型的男性和经典或寡症状表型的女性（p<0.001）。视网膜血管迂曲度指数与系统性疾病严重程度参数显著相关[全球 MSSI（r=-0.5；p<0.01）、心血管 MSSI（r=-0.5；p<0.01）、溶酶体-Gb3（r=-0.6；p<0.01）]。
我们提倡基于眼底成像的自动量化视网膜血管迂曲度指数优于 OCT-A 成像，因为它是一种快速、非侵入性、易于评估、客观和可重复的标志物。
