Kase Satoru, Ishida Susumu
Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Mol Clin Oncol. 2019 May;10(5):521-523. doi: 10.3892/mco.2019.1824. Epub 2019 Mar 14.
von Hippel Lindau (VHL) disease is caused by inactivation of the VHL tumor suppressor gene, resulting in formation of multiple systemic tumors. Juxtapapillary retinal capillary hemangioma (JRCH) is one of the major manifestations in VHL disease; however, treatments are challenging, especially in children. The present study reports the case of a 6-year-old girl with suspected VHL disease presenting with JRCH. Fluorescein angiography demonstrated marked dye leakage from the tumor. Retinal hemorrhage occurred around the tumor 7 months later. Laser photocoagulation of the tumor tissue was safely and successfully conducted without general anesthesia. The hemorrhage diminished after laser photocoagulation. Optical coherence tomography demonstrated mild resolution of an elevated lesion in JRCH with contraction of the vitreoretinal interface over the tumor. Laser photocoagulation may be considered the first-line treatment for young patients with JRCH, although the primary physicians must have the necessary skills and be able to establish good doctor-patient relationships, even with children.
冯·希佩尔-林道(VHL)病是由VHL肿瘤抑制基因失活引起的,会导致多个系统性肿瘤的形成。视乳头旁视网膜毛细血管瘤(JRCH)是VHL病的主要表现之一;然而,治疗具有挑战性,尤其是在儿童患者中。本研究报告了一名6岁疑似患有VHL病且伴有JRCH的女孩的病例。荧光素血管造影显示肿瘤有明显的染料渗漏。7个月后,肿瘤周围发生了视网膜出血。在没有全身麻醉的情况下,成功且安全地对肿瘤组织进行了激光光凝治疗。激光光凝治疗后出血减少。光学相干断层扫描显示JRCH中隆起病变有轻度消退,肿瘤上方的玻璃体视网膜界面收缩。激光光凝可被视为JRCH年轻患者的一线治疗方法,不过主治医生必须具备必要的技能,并且即使面对儿童患者也能够建立良好的医患关系。