Wiest Maximilian Robert Justus, Toro Mario Damiano, Nowak Albina, Bajka Anahita, Fasler Katrin, Al-Sheikh Mayss, Hamann Timothy, Zweifel Sandrine Anne
Department of Ophthalmology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland.
Eye Clinic, Public Health Department, Federico II University, 80131 Naples, Italy.
Diagnostics (Basel). 2023 Mar 24;13(7):1227. doi: 10.3390/diagnostics13071227.
Fabry disease (FD) is a potentially lethal lysosomal disorder with systemic vascular changes. Previous studies demonstrated retinal vascular involvement using optical coherence tomography angiography (OCTA) in affected patients; Aim: To analyze and quantify the retinal vasculature measuring vessel density (VD), vessel length density (VLD), and the ratio of VD to VLD (VD/VLD) in superficial capillary plexuses (SCP) and deep capillary plexuses (DCP) using OCTA in patients with FD and to show whether they differ from healthy controls (HC); Patients and methods: Single-center, retrospective, consecutive cohort study of patients with genetically proven FD. Patients underwent an ophthalmological examination including OCTA. VD, VLD, foveal avascular zone (FAZ), and the VD/VLD were compared to an HC group using a linear mixed model; Results: A statistically significant difference in the VLD and VD/VLD of DCP was observed between the two groups ( < 0.001). Using ROC curves with AUC and Youden's Index, a cut-off value for differentiating both groups using VD/VLD in DCP FD with high specificity and high sensitivity was established; Conclusions: FD and HC groups seem to be separable using the VD/VLD ratio in DCP. This new biomarker might differentiate changes in the retinal microvasculature that are not detectable by VD or VLD alone.
法布里病（FD）是一种具有全身血管改变的潜在致死性溶酶体疾病。既往研究利用光学相干断层扫描血管造影（OCTA）证实了受累患者存在视网膜血管受累情况；目的：利用OCTA分析并量化FD患者浅表毛细血管丛（SCP）和深部毛细血管丛（DCP）中测量血管密度（VD）、血管长度密度（VLD）以及VD与VLD之比（VD/VLD）的视网膜血管系统，并观察其是否与健康对照（HC）不同；患者与方法：对基因确诊的FD患者进行单中心、回顾性、连续队列研究。患者接受了包括OCTA在内的眼科检查。使用线性混合模型将VD、VLD、黄斑无血管区（FAZ）以及VD/VLD与HC组进行比较；结果：两组之间DCP的VLD和VD/VLD存在统计学显著差异（<0.001）。利用具有曲线下面积（AUC）和尤登指数的ROC曲线，确定了在DCP FD中使用VD/VLD区分两组的具有高特异性和高敏感性的截断值；结论：使用DCP中的VD/VLD比值似乎可以区分FD组和HC组。这种新的生物标志物可能区分仅通过VD或VLD无法检测到的视网膜微血管变化。
