使用光学相干断层扫描血管造影（OCTA）阐明Von Hippel-Lindau病（VHL）患者中非典型视网膜血管增殖的临床特征。前瞻性观察性研究。于2019年1月至2022年3月期间前来京都大学医院就诊并被诊断为VHL病的57名连续患者。采用多模态成像技术，包括OCTA，评估视网膜血管母细胞瘤（RHs）。将RHs分为两个表型：结节型和扁平型。结节型RHs被定义为球形，边界清晰的典型RHs，通常伴有扩张的供应动脉和引流静脉。扁平型RHs没有凸出的红色或有色肿块，边界不明确且变化多样，没有供血和引流血管。非典型扁平型RHs的患病率、分布和描述。在57名VHL患者中，至少1只眼中出现RHs的患者有37名（64.9%），23名患者（62.2%）出现双侧RHs。在37名出现RHs患者的58只眼中，54只眼检测到典型的结节型RHs。结节型RHs主要见于外周视网膜，并且偶尔见于近视神经盘区，有些情况下表现为渗出性病变。扁平型RHs在7只眼中发现（12.1%）。其中4只眼仅显示扁平型RHs，3只眼同时显示两种表型。大多数扁平型RHs在眼底检查中呈现为视网膜出血或内膜区域内的淡色扁平异常血管，常见于黄斑区域或视乳头区域。在所有患有扁平型RHs的眼中，OCTA显示有丰富的血流在病变中。OCT揭示扁平型RHs主要出现在视网膜神经纤维层和神经节细胞层之间，并偶尔在内核层内。平均随访20.4±15.0个月期间，没有扁平型RHs伴随淋巴液渗出、牵引性视网膜脱离或大小变化。VHL病患者可能出现两种不同类型的RHs：经典的结节型和非典型的扁平型RHs。 OCTA可以帮助提高检测非典型扁平型RHs的准确性，而在临床上很难检测到。Copyright © 2023. Published by Elsevier Inc.

To elucidate the clinical characteristics of atypical retinal vascular proliferation in patients with von Hippel-Lindau (VHL) disease using optical coherence tomography angiography (OCTA).Prospective observational study.Fifty-seven consecutive patients diagnosed with VHL disease who visited Kyoto University Hospital between January 2019 and March 2022.Retinal hemangioblastomas (RHs) were assessed using multimodal imaging including OCTA. RHs were classified into two phenotypes: nodular and flat types. Nodular-type RHs were defined as typical RHs that were globular, well-circumscribed tumors, often accompanied with dilated feeder arterioles and draining venules. Flat-type RHs lacked a protruded red or colored mass, had variable and indistinct borders, and were not accompanied with feeder and draining vessels.The prevalence, distribution, and description of atypical flat RHs.Among 57 consecutive patients with VHL disease, 37 patients (64.9%) showed RHs in at least 1 eye. Bilateral RHs were seen in 23 patients (62.2%). Among 58 eyes of 37 patients with RHs, typical nodular-type RHs were detected in 54 eyes. Nodular-type RHs were seen mainly in the peripheral retina and occasionally in the peripapillary region, and they showed exudative changes in some cases. Flat-type RHs were detected in 7 eyes (12.1%). Four eyes showed only flat-type RHs, and 3 eyes showed both types in the same eye. Most flat-type RHs appeared as retinal hemorrhage or faint flat abnormal retinal vessels in the inner retina on the fundus examination, often within the macula area or peripapillary. In all eyes with flat-type RHs, OCTA showed abundant blood flow in the lesions. OCT revealed that flat-type RHs were seen mainly between the retinal nerve fiber layer and the ganglion cell layer, and occasionally within the inner nuclear layer. During a mean follow-up period of 20.4 ± 15.0 months, no flat-type RHs accompanied exudative change or tractional retinal detachment, or progression in size.Patients with VHL disease can present with two distinct types of RHs; the classic nodular-type and atypical flat-type RHs. OCTA can be useful in improving the detection of atypical flat-type RHs which can be difficult to detect clinically.Copyright © 2023. Published by Elsevier Inc.