Junker B, Schmidt D, Agostini H T
Universitätsaugenklinik Freiburg, 79106, Killianstrasse 5 , Freiburg, Germany.
Ophthalmologe. 2007 Feb;104(2):107-13. doi: 10.1007/s00347-006-1477-6.
Von Hippel-Lindau disease (VHL disease) is a rare multisystem disorder of autosomal dominant inheritance with high penetrance. Inactivation of the VHL-protein leads to an increased expression of hypoxia induced growth factors. Predilection sites for tumor growth are the retina, the central nervous system and various visceral organs. Retinal capillary hemangioblastoma is one of the earliest manifestations of VHL disease. The lifetime risk of permanent visual loss defined as a visual acuity of 0.5 or less is about 35% in gene carriers. It increases to 60% if there is already retinal capillary hemangioblastoma. If VHL disease is suspected, a careful ophthalmological examination should be included in the clinical screening program. Having confirmed the diagnosis, regular ophthalmoscopic monitoring is essential in order to detect developing tumors at an early stage. Therapeutic options for small to medium sized peripheral tumors are laser or cryocoagulation; larger- hemangioblastomas can be treated by brachytherapy using ruthenium plaques, while asymptomatic juxtapapillary tumors can be observed at regular intervals.
冯·希佩尔-林道病（VHL病）是一种罕见的常染色体显性遗传性多系统疾病，具有高外显率。VHL蛋白的失活导致缺氧诱导生长因子的表达增加。肿瘤生长的好发部位是视网膜、中枢神经系统和各种内脏器官。视网膜毛细血管瘤是VHL病最早的表现之一。基因携带者中，永久性视力丧失（定义为视力0.5或更低）的终生风险约为35%。如果已经存在视网膜毛细血管瘤，这一风险会增加到60%。如果怀疑患有VHL病，临床筛查程序应包括仔细的眼科检查。确诊后，定期眼底镜监测对于早期发现正在发展的肿瘤至关重要。中小型周边肿瘤的治疗选择是激光或冷冻凝固；较大的毛细血管瘤可采用钌板近距离放射治疗，而无症状的邻乳头肿瘤可定期观察。
