利用光學相干斷層掃描血管攝影在von Hippel-Lindau症候群中檢測到的視網膜血管母細胞瘤的新型表現<

Ophthalmology Volume 130, Number 7, July 2023

中文摘要

本研究旨在利用光學相干斷層掃描血管攝影（OCTA）表徵馮·希普·林道維症候群（von Hippel-Lindau, VHL）患者中非典型視網膜血管增生的臨床特徵。研究納入了57名被診斷為VHL病的患者。視網膜血管母細胞瘤（Retinal hemangioblastomas, RH）被分為兩種表現型：結節型(nodular)和平坦型(flat)。在平均20.4個月的follow-up期間內，平坦型RH未出現滲出性變化、牽拉性視網膜脫離或大小進展。多模式影像學，包括OCTA，被用於評估與VHL病相關的RH的特異表現。OCTA顯示平坦型RH中有豐富的血流，使其與結節型RH區分開來。此外，還回顧了典型結節型和非典型平坦型RH的典型病例，以突顯它們的影像特徵。研究結果強調了OCTA在檢測和表徵VHL病患者中的RH的實用性，尤其是在常規眼底檢查中可能不明顯的非典型平坦型RH。需要長期觀察來確定這些平坦型RH的臨床進程和最佳治療方法。

English Abstract

Title: OCT Angiography Detects Novel Manifestation of Retinal Hemangioblastomas in von Hippel-Lindau Disease

This study aimed to characterize the clinical features of atypical retinal vascular proliferation in patients with von Hippel-Lindau (VHL) disease using OCT angiography (OCTA). Fifty-seven consecutive patients diagnosed with VHL disease were included in the study. Retinal hemangioblastomas (RHs) were classified into two phenotypes: nodular and flat. During a mean follow-up period of 20.4 months, no flat RHs exhibited exudative changes, tractional retinal detachment, or size progression. Multimodal imaging, including OCTA, was used to assess the peculiar manifestation of RHs associated with VHL disease. OCTA revealed abundant blood flow in the flat RHs, distinguishing them from nodular RHs. Furthermore, representative cases of classic nodular and atypical flat RHs were reviewed to highlight their imaging characteristics. The findings emphasize the utility of OCTA in detecting and characterizing RHs in patients with VHL disease, particularly the atypical flat RHs that may not be apparent during conventional fundus examinations. Longitudinal observation is necessary to determine the clinical course and optimal treatment of these flat RHs.