Ophthalmology department, SEHHAT Foundation Hospital, Danyore, Gilgit, Pakistan.
School of Optometry & Department of Ophthalmology, The University of Faisalabad, Faisalabad, Pakistan.
Semin Ophthalmol. 2021 Oct 3;36(7):531-540. doi: 10.1080/08820538.2021.1897851. Epub 2021 Mar 29.
von Hippel-Lindau (VHL) syndrome is a multisystem neoplastic disorder involving eyes, central nervous system, kidneys, spine, and other tissues. A retinal capillary hemangioma (RCH) is the earliest manifestation of the VHL disease in most cases.This paper aims to provide an up-to-date review of the current literature about von Hippel-Lindau syndrome. Molecular background, systemic and ocular features of the diseases as well as the utility of newer imaging modalities in diagnosis and monitoring of ocular VHL disease have been described. Besides, we have discussed newer treatment modalities and therapeutic targets. Modern imaging technologies like optical coherence tomography and optical coherence tomography angiography are tools of the trade, in making an appropriate diagnosis and monitoring disease activity and response to treatment. Peripheral RCH may be treated using laser photocoagulation in tumors up to 3000 µm. Vascular endothelial growth factor suppression can help in reducing tumor activity and stabilize the tumor size; however, it does not regress the RCH.
希佩尔-林道综合征（VHL）是一种多系统肿瘤性疾病，涉及眼睛、中枢神经系统、肾脏、脊柱和其他组织。视网膜毛细血管血管瘤（RCH）是大多数情况下 VHL 疾病的最早表现。本文旨在对 VHL 综合征的当前文献进行最新综述。描述了疾病的分子背景、全身和眼部特征，以及新的成像方式在诊断和监测眼部 VHL 疾病中的应用。此外，我们还讨论了新的治疗方式和治疗靶点。现代成像技术，如光学相干断层扫描和光学相干断层扫描血管造影，是做出正确诊断、监测疾病活动和治疗反应的工具。对于直径达 3000 µm 的肿瘤，可采用激光光凝治疗外周 RCH。血管内皮生长因子抑制有助于减少肿瘤活性并稳定肿瘤大小；然而，它并不能使 RCH 消退。
