Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.
Br J Ophthalmol. 2018 Jul;102(7):942-947. doi: 10.1136/bjophthalmol-2017-310884. Epub 2017 Sep 28.
We aimed to determine the frequency of von Hippel-Lindau disease (vHL) as the underlying cause of retinal hemangioblastoma and to estimate retinal hemangioblastoma incidence and prevalence in a national cohort study.
Through the national patient register and vHL research database, we identified 81 patients diagnosed with a retinal hemangioblastoma in Denmark between 1977 and 2014. Consent was obtained for 54 living and 10 deceased patients with retinal hemangioblastoma. For each participant, we collected medical records and family information. Almost all (63 of 64) participants were or had previously been tested for mutations in the gene.
Overall, 84% of the participants (54 of the 64) had vHL. Compared with the non-vHL patients, the vHL patients had their first retinal hemangioblastoma at a younger age (22.5 vs 40 years), and were more likely to have an asymptomatic first hemangioblastoma (80% vs 20%). Overall, 76% (41 of 54) of the vHL patients had a family history of vHL, while none of the patients without vHL did. Despite the rarity of the disease, on average more than eight new tumours are diagnosed each year due to multiple tumour development in vHL patients. The estimated prevalence of patients with retinal hemangioblastoma was up to 1 in 73 080 individuals.
In the first national study in which almost all participants were genetically tested, vHL was the underlying cause of retinal hemangioblastoma in 84% of cases; more often than previously reported. We recommend that genetic and clinical vHL screening should be performed in all patients with retinal hemangioblastoma.
我们旨在确定视网膜血管母细胞瘤的潜在病因von Hippel-Lindau 病（vHL）的频率，并通过全国性队列研究估计视网膜血管母细胞瘤的发病率和患病率。
通过全国患者登记处和 vHL 研究数据库，我们在丹麦确定了 1977 年至 2014 年间诊断为视网膜血管母细胞瘤的 81 例患者。获得了 54 名存活和 10 名已故视网膜血管母细胞瘤患者的同意。对于每个参与者，我们收集了病历和家族信息。几乎所有（64 名中的 63 名）参与者均接受过基因的突变检测。
总体而言，84%的参与者（64 名中的 54 名）患有 vHL。与非 vHL 患者相比，vHL 患者的首次视网膜血管母细胞瘤发病年龄更小（22.5 岁 vs. 40 岁），且首次无症状血管母细胞瘤的可能性更大（80% vs. 20%）。总体而言，76%（54 名中的 41 名）的 vHL 患者有 vHL 的家族史，而没有 vHL 的患者则没有。尽管该疾病罕见，但由于 vHL 患者的多发肿瘤，每年平均诊断出超过 8 个新肿瘤。估计视网膜血管母细胞瘤患者的患病率高达每 73080 人中就有 1 人。
在第一项几乎所有参与者均进行基因检测的全国性研究中，vHL 是 84%病例中视网膜血管母细胞瘤的潜在病因，这一比例高于之前的报道。我们建议对所有视网膜血管母细胞瘤患者进行遗传和临床 vHL 筛查。
