Chen Jing-Yi, Chou Hung-Da, Chao An-Ning, Lai Chi-Chun, Sagoo Mandeep S
Department of Medical Education, Chang Gung Memorial Hospital, Taichung, Taiwan.
Department of Medical Education, Taichung Veterans General Hospital, Taichung, Taiwan.
Taiwan J Ophthalmol. 2025 Mar 5;15(1):138-142. doi: 10.4103/tjo.TJO-D-24-00116. eCollection 2025 Jan-Mar.
In this study, we report a rare case of retinal vascular proliferation (RVP) in von Hippel-Lindau (VHL) disease, followed by a literature review. A 12-year-old boy presented with a left cerebellar hemangioblastoma and right eye blurred vision for 1-2 years. Fundus examination found no capillary hemangioblastoma lesion but a broad epiretinal fibrovascular membrane, which caused significant traction to the right macula. The genetic testing identified a pathogenic missense mutation (c. 223A > G) within the gene, confirming VHL disease. RVP is a less common, poorly understood condition that can occur in VHL disease apart from the typical retinal capillary hemangioblastoma. The surface vasculature of the fibrovascular membrane regressed over an observation period of 3 years, and pars plana vitrectomy was eventually conducted at the age of 15 years to remove the fibrovascular membrane. Nevertheless, his visual acuity remained at 20/200 at postoperative 1 year due to the development of cataracts. In our literature review, we analyzed 39 reported cases of RVP, of which 90% had unilateral lesions, 70% had lesions at the juxtapapillary location, and 50% had a visual acuity <20/40. The mean onset age was 24 years. An intervention was performed in 39% of the cases and 78% experienced improved vision posttreatment. In conclusion, RVP likely starts as mainly vascular proliferation and eventually regresses spontaneously to fibrotic tissue formation. Unlike typical retinal capillary hemangioblastoma, vision can improve after an intervention, even in eyes with juxtapapillary lesions.
在本研究中，我们报告了1例希佩尔-林道（VHL）病合并视网膜血管增生（RVP）的罕见病例，并进行了文献复习。一名12岁男孩因左侧小脑成血管细胞瘤及右眼视力模糊1 - 2年就诊。眼底检查未发现毛细血管性成血管细胞瘤病变，但见广泛的视网膜前纤维血管膜，该膜对右眼黄斑区造成明显牵拉。基因检测在该基因内鉴定出一个致病性错义突变（c. 223A > G），确诊为VHL病。RVP是一种较罕见且了解较少的情况，除典型的视网膜毛细血管性成血管细胞瘤外，也可发生于VHL病。在3年的观察期内，纤维血管膜的表面血管逐渐消退，最终在15岁时行玻璃体切割术以切除纤维血管膜。然而，由于白内障的发生，术后1年其视力仍为20/200。在我们的文献复习中，我们分析了39例已报道的RVP病例，其中90%为单侧病变，70%病变位于视乳头旁，50%视力<20/40。平均发病年龄为24岁。39%的病例进行了干预，78%的患者治疗后视力改善。总之，RVP可能主要起始于血管增生，最终自发消退为纤维化组织形成。与典型的视网膜毛细血管性成血管细胞瘤不同，即使是视乳头旁病变的眼睛，干预后视力也可改善。
