Department of Ophthalmology, Eye Research Center, Rassoul Akram Hospital, Eye Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Niayesh Ave., Sattarkhan St., Tehran, 14456, Iran.
Mol Genet Genomics. 2022 Nov;297(6):1615-1626. doi: 10.1007/s00438-022-01940-z. Epub 2022 Aug 25.
Retinal capillary hemangioblastomas (RCH) is a benign tumor that represents the initial manifestation in roughly half of Von Hippel Lindau (VHL) patients. They may also occur sporadically without systemic involvement. A first meta-analysis study was investigated to estimate the prevalence of Retinal capillary hemangioblastoma (RCH) in Von Hippel Lindau (VHL) syndrome, and its relation to type and location of mutations in VHL gene. The electronic databases of PubMed, Scopus, Embase, and Google Scholar were utilized to find eligible papers published up to May 2020. Lastly, after the different prevalence of RCH in Europe compared to other continents was noted, we decided to consider European and non-European patients separately. The Random effect model was used to evaluate the relation between developing RCH and types of mutations. The overall prevalence of RCH among VHL patients is about 47%. The prevalence of RCH was significantly higher in Europe in comparison with non-Europeans (p value < 0.001). Overall, the differences between the prevalence of RCH among different mutation types were not statistically significant. However, in Europe, the prevalence of RCH was significantly higher in patients with truncation mutation (p value = 0.007). In Europe, the RCH in VHL patients who had a mutation in exon 2 was significantly lower in comparison with exon 1 (p value = 0.001); but in non-Europeans, the prevalence of RCH in VHL patients that involved exon 2 was significantly higher in comparison with VHL patients with a mutation in exon1 (p value = 0.012). The highest risk of developing RCH was reported among Europeans. Overall, this study showed that the prevalence of RCH in VHL syndrome is not related to type or location of mutations and difference of RCH prevalence is probably depends on other genetic or environmental factor that should be considered in subsequent studies.
视网膜毛细血管血管瘤（RCH）是一种良性肿瘤，约占 von Hippel-Lindau（VHL）综合征患者的一半。它们也可能在没有全身受累的情况下零星发生。我们进行了第一项荟萃分析研究，以评估 VHL 综合征中视网膜毛细血管血管瘤（RCH）的患病率及其与 VHL 基因突变类型和位置的关系。我们利用 PubMed、Scopus、Embase 和 Google Scholar 电子数据库，查找截至 2020 年 5 月发表的合格文献。最后，注意到欧洲与其他大陆相比 RCH 的患病率不同后，我们决定分别考虑欧洲和非欧洲患者。我们采用随机效应模型评估了发生 RCH 与基因突变类型之间的关系。VHL 患者中 RCH 的总体患病率约为 47%。与非欧洲人相比，欧洲 RCH 的患病率明显更高（p 值<0.001）。总体而言，不同突变类型之间 RCH 患病率的差异无统计学意义。然而，在欧洲，截断突变患者的 RCH 患病率明显更高（p 值=0.007）。在欧洲，与 exon1 突变相比，exon2 突变的 VHL 患者中 RCH 的发生率明显较低（p 值=0.001）；但是在非欧洲人中，exon2 突变的 VHL 患者中 RCH 的患病率明显高于 exon1 突变的 VHL 患者（p 值=0.012）。欧洲人发生 RCH 的风险最高。总的来说，这项研究表明，VHL 综合征中 RCH 的患病率与基因突变的类型或位置无关，而 RCH 患病率的差异可能取决于其他遗传或环境因素，这应该在后续研究中加以考虑。
