Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma.
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma.
复制标题
异常侵袭性视网膜血管母细胞瘤病例的巩膜穿透。
DOI：
10.1016/j.jcjo.2013.01.014
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Sodhi,Akrit
中科院分区：
文献类型：
--
作者：
Rodrigues,Murilo;Iliff,NicholasT;Eberhart,CharlesG;Montaner,Silvia;Sodhi,Akrit
VHL病是一种常染色体显性遗传的多系统疾病，以各种良性和恶性肿瘤的发生为特征。90%的VHL综合征患者在65岁时会出现症状，但大多数人在十几岁或二十几岁时就已经有了临床上的重大问题。视网膜血管化病变（血管母细胞瘤）仍然是VHL疾病最常见的表现，发生在大多数VHL患者中，通常是疾病的第一个体征1。受视网膜血管母细胞瘤影响的患者表现为视力丧失，并可能发展为伴有晚期病变的疼痛性继发性青光眼2。由于有症状的视网膜血管母细胞瘤的失明风险很高，因此在症状出现之前进行诊断和治疗是有益的。尽管与这些肿瘤相关的发病率相当高，但视网膜和中枢神经系统血管母细胞瘤由于其通常有限的局部浸润和缺乏转移性扩散而被归类为良性肿瘤3。在这里，我们报告了一个不寻常的情况下，56岁的妇女与已知的VHL疾病和历史的双边视网膜血管母细胞瘤。这个正常的良性血管肿瘤充满了一只眼睛的玻璃体腔，并穿透巩膜延伸到眼外，最终需要眼球摘除。
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited multisystem disorder characterized by the development of a variety of benign and malignant tumors. Ninety per cent of patients with VHL syndrome will manifest symptoms by age 65, but most already have clinically significant issues in their teens or twenties. Retinal vascularized lesions (hemangioblastomas) remain the most common manifestation of VHL disease, occurring in the majority of VHL patients, often as the first sign of the disease1. Patients affected by retinal hemangioblastomas present with loss of vision and may develop a painful secondary glaucoma with advanced lesions2. Since the risk of blindness is high in eyes with symptomatic retinal hemangioblastomas, diagnosis and treatment before symptoms develop is beneficial. Despite the considerable morbidity associated with these tumors, retinal and CNS hemangioblastomas are classified as benign tumors due to their generally limited local invasion and lack of metastatic spread3. Here we report an unusual case of a 56 year-old woman with known VHL disease and a history of bilateral retinal hemangioblastomas. This normally benign vascular tumor filled the vitreous cavity in one eye, and penetrated the scleral with extraocular extension, ultimately requiring enucleation.