BACKGROUND Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. METHODS 54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp and fundus examination. SD-OCT imaging of the macula was performed in all subjects. Central retinal thickness and retinal nerve fiber layer analysis were quantified. Vessel tortuosity was obtained by a subjective scoring and mathematically calculated. Inner retinal hyperreflective foci (HRF) were quantified, clinically graded and correlated with a biomarker of Fabry disease (lyso-Gb3). RESULTS In comparison to an age-matched control group, a significant amount of HRF was identified in macular SD-OCT images in FD patients. These HRF were localized within the inner retinal layers. Furthermore, lyso-Gb3 levels correlated significantly with the quantitative evaluation of HRF (p < 0,001). In addition, the vessel tortuosity was remarkably increased in FD patients compared to control persons and correlated significantly with lyso-G3 levels (p = 0.005). A further subanalysis revealed significantly higher HRF and vessel tortuosity scores in male patients with the classic FD phenotype. CONCLUSIONS The observational, cross sectional, comparative study describes novel intraretinal findings in patients with FD. We were able to identify suspicious HRF within the inner retinal layers. These findings were not accompanied by functional limitations, as visual acuity remained unchanged. However, HRF correlated well with lyso-Gb3, a degradation product of the accumulating protein Gb3 and might potentially indicate Gb3 accumulation within the highly metabolic and densely vascularized macula.

中文翻译：

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法布里病中的视网膜高反射灶。

背景法布里病（FD）是由溶酶体α-半乳糖苷酶A缺乏引起的X连锁遗传性存储障碍。在这里，我们描述通过光谱域光学相干断层扫描（SD-OCT）评估的FD患者的新视网膜发现及其可能的临床意义关联。方法包括27例FD患者的54眼和27例对照组的54眼。眼科检查包括视力检查，眼压计，裂隙灯和眼底检查。在所有受试者中进行了黄斑的SD-OCT成像。定量视网膜中央厚度和视网膜神经纤维层分析。通过主观评分获得船只的曲折度并进行数学计算。量化内部视网膜高反射灶（HRF），对其进行临床分级并与法布里疾病（lyso-Gb3）的生物标记物相关联。结果与年龄匹配的对照组相比，FD患者的黄斑SD-OCT图像中发现了大量HRF。这些HRF位于视网膜内层内。此外，溶血Gb3水平与HRF的定量评估显着相关（p <0,001）。此外，与对照组相比，FD患者的血管弯曲度显着增加，并且与溶血G3水平显着相关（p = 0.005）。进一步的亚分析显示，在具有经典FD表型的男性患者中，HRF和血管曲折性评分显着更高。结论观察性横断面比较研究描述了FD患者的新的视网膜内发现。我们能够在视网膜内层中识别出可疑的HRF。这些发现没有伴随功能限制，因为视力保持不变。但是，HRF与溶血性Gb3（积累的蛋白质Gb3的降解产物）具有很好的相关性，并且可能潜在地表明Gb3在高代谢和密集血管化的黄斑中的蓄积。