Evidence supports that hereditary angioedema (HAE) may be considered as a paroxysmal permeability disorder with defective but self-limiting endothelial barrier dysfunction. A potential subclinical abnormal vascular permeability at retinal capillaries could induce damage resulting in retinopathy. We aimed at exploring for the first time the presence of microangiopathy at retinal level from a highly selective cohort of patients with HAE due to C1 esterase inhibitor protein (C1INH) deficiency (type I). We conducted a pilot, prospective, case-control study including 20 type I HAE patients and 20 age-/sex-matched healthy controls (HC). All participants underwent standard ophthalmological examination including visual fields. Superficial and deep capillary plexi in the retina were analyzed by using new optical coherence tomography angiography (OCT-A). A total of 40 eyes from 20 HAE patients and 20 eyes from HC were evaluated. Perimetric indices of visual field were slightly worse in HAE than in controls. OCT-angiograms documented in HAE patients a lower retinal capillary density in both superficial and deep scans and a higher retinal thickness compared to healthy eyes. Our findings firstly documented subclinical abnormalities in retinal microvascular network in type I HAE patients that might be associated with early subtle functional changes. This preliminary evidence supports the hypothesis of a recurrent endothelial barrier failure at retinal level in HAE patients potentially resulting in chronic damage.

中文翻译：

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遗传性血管性水肿中视网膜微血管灌注的评估：病例对照研究。

有证据支持遗传性血管性水肿（HAE）可被认为是一种阵发性通透性疾病，具有缺陷性但自限性内皮屏障功能障碍。视网膜毛细血管潜在的亚临床异常血管通透性可能引起损伤，导致视网膜病变。我们的目标是首次探讨由于C1酯酶抑制剂蛋白（C1INH）缺乏症（I型）引起的HAE患者的高度选择性队列中视网膜水平微血管病变的存在。我们进行了一项前瞻性，前瞻性病例对照研究，包括20例I型HAE患者和20例年龄/性别匹配的健康对照（HC）。所有参与者均接受了标准的眼科检查，包括视野。使用新的光学相干断层扫描血管造影（OCT-A）分析视网膜中的浅表和深层毛细血管丛。评估了来自20例HAE患者的40眼和来自HC的20眼。与对照相比，HAE中视野的视野指数稍差。与健康的眼睛相比，在HAE患者中记录的OCT血管造影照片在浅层和深层扫描中均具有较低的视网膜毛细血管密度和较高的视网膜厚度。我们的发现首先记录了I型HAE患者视网膜微血管网络的亚临床异常，这可能与早期的细微功能改变有关。该初步证据支持HAE患者在视网膜水平上复发性内皮屏障衰竭的假说，可能导致慢性损伤。与健康的眼睛相比，在HAE患者中记录的OCT血管造影照片在浅层和深层扫描中均具有较低的视网膜毛细血管密度和较高的视网膜厚度。我们的发现首先记录了I型HAE患者视网膜微血管网络的亚临床异常，这可能与早期的细微功能改变有关。该初步证据支持HAE患者在视网膜水平上复发性内皮屏障衰竭的假说，可能导致慢性损伤。与健康的眼睛相比，在HAE患者中记录的OCT血管造影照片在浅层和深层扫描中均具有较低的视网膜毛细血管密度和较高的视网膜厚度。我们的发现首先记录了I型HAE患者视网膜微血管网络的亚临床异常，这可能与早期的细微功能改变有关。该初步证据支持HAE患者在视网膜水平上复发性内皮屏障衰竭的假说，可能导致慢性损伤。