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Original Investigation | Clinical Sciences

Retinal Vasoproliferative Tumors in 6 Patients With Neurofibromatosis Type 1

Jerry A. Shields, MD1; Marco Pellegrini, MD1; Swathi Kaliki, MD1,2; Arman Mashayekhi, MD1; Carol L. Shields, MD1
[+] Author Affiliations
1The Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania
2The Ocular Oncology Service, L. V. Prasad Eye Institute, Hyderabad, India
JAMA Ophthalmol. 2014;132(2):190-196. doi:10.1001/jamaophthalmol.2013.6281.
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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.

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Figure 1.
Imaging of Retinal Vasoproliferative Tumors (RVPTs) in Patients With Neurofibromatosis Type 1

Inferior RVPT (A) and extensive exudation in the posterior fundus, confirmed on fluorescein angiogram (B) and B-scan ultrasonogram (C) (patient 1). D, Superotemporal RVPT and inferior exudative retinal detachment (patient 2). Note that the macula is normal. Fluorescein angiogram (E) and B-scan ultrasonogram (F) are noted. Inferotemporal RVPT (G) with extensive exudative retinal detachment in the posterior fundus, confirmed on fluorescein angiogram (H) and B-scan ultrasonogram (I) (patient 3).

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Figure 2.
Clinical Variations of Retinal Vasoproliferative Tumors (RVPTs) in Patients With Neurofibromatosis Type 1

A, Superior RVPT seen through vitreous blood in patient 4. B, The lesion was treated with cryotherapy with complete regression and visual acuity of 6/9 at 17-year follow-up. C, Neovascular glaucoma required a shunt valve. D, Prosthetic right eye after enucleation for neovascular glaucoma when the patient was 5 years old (patient 5). E, Tracheostomy tube placed for tracheal compression from subcutaneous neurofibroma. F, Hazy view of RVPT (VPT) through vitreous hemorrhage. Note the surrounding exudation (Exudation). The lesion was treated with cryotherapy. After 11 years, visual acuity was 6/7.5, and the tumor was completely controlled. G, The right eye had neovascular glaucoma and vascular congestion from untreated RVPT with retinal detachment. H, The left eye had iris Lisch nodules. I, The abdominal skin had numerous neurofibromas.

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