Patients with neurofibromatosis need screening for vasoproliferative tumors
TORONTO — Patients with neurofibromatosis type 1 should be screened for retinal vasoproliferative tumors, and if present, prompt treatment is warranted, an expert here said.
“You should add retinal vasoproliferative tumors to your list of lesions that are seen in the fundus in neurofibromatosis,” Jerry Shields, MD, said at the American Society of Retina Specialists meeting. “It can cause severe complications.”
The ocular fundus is usually normal in neurofibromatosis type 1 (NF1), but rarely manifestations occur as myelinated retinal nerve fibers, combined hamartoma, diffuse choroidal neurofibroma, uveal melanoma and uveal schwannoma, Shields said. Although best treatment is not yet established, clinical findings guide treatment with such modalities as cryotherapy, laser, photodynamic therapy, plaque therapy and anti-VEGF therapy, among others.
In a series of 334 patients with retinal vasoproliferative tumors, Shields and colleagues found six patients had NF1. All were white and relatively young, between 9 and 36 years old. Outcomes after varied treatments ranged from good to poor, with one patient’s eye being enucleated.
Disclosure: Shields has no relevant financial disclosures.