Retinal Vasoproliferative Tumors in 6 Patients With Neurofibromatosis Type 1 (original) (raw)

n 1983, Shields and associates reported 12 cases of a retinal vascular mass with distinct clinical features that had not been clearly defined previously. 1 Numerous subsequent publications 2-25 further characterized the clinical and histopathologic features of this tumor, which is now most often called retinal vasoproliferative tumor (RVPT). Initially, RVPT was reported to have no major ocular or systemic associations. 1 However, in a report 2 in 1995 of 129 RVPTs in 103 patients, 74 (72%) were idiopathic and 29 (28%) were found in patients who had other conditions, including intermediate uveitis, retinitis pigmentosa, and several others. Hence, the authors classified RVPTs into primary (idio-pathic) and secondary types. 2 Since that publication, the list of secondary RVPTs has continued to expand. 2,9-23 The pathogenesis and histopathologic characteristics of RVPT have been the subject of controversy. 4-8,24,25 Neurofibromatosis type 1 (NF1) is a well-known oculoneurocutaneous syndrome with extensive clinical manifestations, including a variety of uveal and retinal findings, such as iris Lisch nodules and multiple choroidal nevi. 23-42 An intriguing association that has been recently recognized is the finding of RVPTs in patients with NF1. 9,10,22 This report describes the clinical findings of RVPTs in 6 patients with NF1 and underscores the risk of severe vision loss in such patients. IMPORTANCE 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. OBJECTIVES 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. MAIN OUTCOMES AND MEASURES 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. CONCLUSIONS AND RELEVANCE 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.