Abstract
Purpose: To report the clinical findings and outcomes in 3 patients with neurofibromatosis 1 (NF1) and retinal vascular abnormalities that resulted in angle closure secondary to iris neovascularization and describe the histopathologic abnormalities in 1 case.
Patients and Methods: Retrospective case series of patients with NF1 and angle closure due to iris neovascularization secondary to retinal vascular abnormalities. Histopathologic analysis of an enucleated eye in 1 case.
Results: Three children whose age ranged from 5 to 10 years at presentation, developed unilateral retinal vascular abnormalities that resulted in iris neovascularization and angle closure with a wide range of intraocular pressures. Two patients had retinal vasoproliferative lesions of which the affected eye became blind in 1 patient and the other retained useful vision after treatment with intracameral Bevacizumab, ablation of the retinal lesions, and surgical treatment of the neovascular glaucoma. The third patient underwent enucleation and had pathologic evidence of retinal ischemia.
Conclusions: A variety of retinal vascular lesions occurring in NF1 are capable of producing iris neovascularization, ectropion uvea, and neovascular glaucoma. Although a spectrum of serious complications resulting in total vision loss can occur, retention of useful vision is possible, in some cases, with aggressive treatment of the retinal lesions and associated neovascular glaucoma. This report highlights the need for careful examination of the posterior segment with special attention to peripheral retinal vascular abnormalities or tumors in young patients with NF1.