The Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
The Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania2The Ocular Oncology Service, L. V. Prasad Eye Institute, Hyderabad, India.
JAMA Ophthalmol. 2014 Feb;132(2):190-6. doi: 10.1001/jamaophthalmol.2013.6281.
Retinal vasoproliferative tumors (RVPTs) are an important ocular finding in patients with neurofibromatosis type 1 (NF1), and early detection of this association and prompt initiation of treatment may prevent vision loss and blindness in affected patients.
To describe the clinical findings of RVPTs in patients with NF1 and to underscore the risk of severe vision loss in such patients. DESIGN, SETTING, AND PATIENTS We performed a retrospective medical record review of 6 patients with RVPTs and NF1 treated at the Ocular Oncology Service, Wills Eye Hospital.
The demographics, clinical features, clinical course, and outcomes of the 6 patients with RVPTs were recorded. RESULTS Of 275 patients with RVPTs, 6 (2.2%) had NF1. At the time of diagnosis of RVPT, the median patient age was 12 years (range, 9-36 years). Visual acuity was variable, ranging from 6/7.5 to light perception on initial presentation to the oncology service. The RVPT was located between the equator and ora serrata in all patients. The mean basal tumor diameter was 11 mm, and the mean tumor thickness was 4 mm. Associated features included subretinal fluid (n = 6), subretinal exudation (n = 6), epiretinal membrane (n = 3), retinal hemorrhage (n = 2), vitreous hemorrhage (n = 1), retinal neovascularization (n = 1), and cystoid macular edema (n = 1). Fluorescein angiography revealed early hyperfluorescence and late staining and leakage of each RVPT. B-scan ultrasonography revealed acoustic solidity of the lesion. Initial management included cryotherapy, intravitreal injection of bevacizumab, plaque radiotherapy, and primary enucleation in 1 patient because of painful neovascular glaucoma.
We found that RVPTs can develop in patients with NF1 and can cause exudative retinopathy, vitreous hemorrhage, and visual loss. Patients with NF1 should undergo periodic ophthalmic examination for detection and treatment of this tumor. It is important to recognize the occurrence of RVPT in patients with NF1 because knowledge of this association and early treatment can prevent severe loss of vision in affected patients.
视网膜血管增生性肿瘤（RVPT）是神经纤维瘤病 1 型（NF1）患者的重要眼部表现，早期发现这种相关性并及时开始治疗，可能会防止受影响患者视力丧失和失明。
描述 NF1 患者中 RVPT 的临床发现，并强调此类患者严重视力丧失的风险。
设计、地点和患者：我们对在 Wills 眼科医院眼肿瘤科接受治疗的 6 例 NF1 合并 RVPT 患者进行了回顾性病历审查。
记录了 6 例 RVPT 合并 NF1 患者的人口统计学、临床特征、临床病程和结局。
在 275 例 RVPT 患者中，有 6 例（2.2%）患有 NF1。在 RVPT 诊断时，中位患者年龄为 12 岁（范围，9-36 岁）。最初就诊于肿瘤科时，视力从 6/7.5 到光感不等。RVPT 位于赤道和锯齿缘之间，所有患者均如此。平均基底肿瘤直径为 11mm，平均肿瘤厚度为 4mm。相关特征包括视网膜下液（n=6）、视网膜下渗出（n=6）、视网膜内膜（n=3）、视网膜出血（n=2）、玻璃体积血（n=1）、视网膜新生血管（n=1）和黄斑囊样水肿（n=1）。荧光素血管造影显示每个 RVPT 均有早期高荧光和晚期染色及渗漏。B 型超声显示病变呈声实性。初始治疗包括冷冻治疗、玻璃体内注射贝伐单抗、贴敷放疗和 1 例因疼痛性新生血管性青光眼行眼球摘除术。
我们发现 NF1 患者可发生 RVPT，并可引起渗出性视网膜病变、玻璃体积血和视力丧失。NF1 患者应定期进行眼科检查，以发现和治疗这种肿瘤。认识到 NF1 患者发生 RVPT 的情况很重要，因为了解这种相关性并及时治疗可以防止受影响患者视力严重丧失。
