Ridley M, Green J, Johnson G
Can J Ophthalmol. 1986 Dec;21(7):276-83.
The ocular manifestations of a large von Hippel-Lindau pedigree are presented. Of 24 persons with retinal angiomas, 18 are living and are the basis of this report. Nineteen of their 28 affected eyes were asymptomatic with 2 to 4 small tumours per eye. Nine eyes had lost vision secondary to exudative detachment. Seven of these had peripheral disease with rapid recurrences. Two had untreated disc tumours. Tumours less than 1 disc diameter (DD) in size were easily treated with photocoagulation. Multiple treatments of cryotherapy were required for larger tumours. Scleral buckle and early vitrectomy are recommended for vitreous traction. Tumour in a 4-year-old and a de-novo tumour in a 42-year-old lead us to recommend life-time surveillance of patients at risk. Many patients had false negative family histories. A review of the literature leads us to suspect that the majority of retinal angiomas are familial. We emphasize the ophthalmologist's responsibility to investigate such patients.
本文报告了一个大型冯·希佩尔-林道（von Hippel-Lindau）家系的眼部表现。在24例患有视网膜血管瘤的患者中，18例尚在世，是本报告的基础。他们28只患眼中，19只无症状，每只眼有2至4个小肿瘤。9只眼因渗出性视网膜脱离而失明。其中7只眼患有周边部病变且复发迅速。2只眼有未治疗的视盘肿瘤。直径小于1视盘直径（DD）的肿瘤通过光凝治疗很容易治愈。较大的肿瘤则需要多次冷冻治疗。对于玻璃体牵拉，建议行巩膜扣带术和早期玻璃体切除术。一名4岁患儿的肿瘤和一名42岁患者的新发肿瘤促使我们建议对有风险的患者进行终身监测。许多患者有假阴性家族史。文献回顾使我们怀疑大多数视网膜血管瘤是家族性的。我们强调眼科医生对这类患者进行调查的责任。
