An Atypical Finding of Peripheral Retinal Ischemia and Neovascularization in Neurofibromatosis Type 1: A Case Report

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic multisystem phakomatosis that can affect the skin, bones, and nervous system. NF1 typically presents with skin lesions, including freckles, café-au-lait macules, plexiform neurofibromas, and bony dysplasia, and is usually accompanied by a family history of the disorder. Ocular manifestations vary, but iris Lisch nodules and optic nerve gliomas are the most common features. However, patients with NF1 may also present with rare ocular findings, such as neovascular glaucoma, astrocytic hamartomas, choroidal nodules, and retinal vascular abnormalities. Here, we report a case of an 18-year-old female patient, born to consanguineous parents, who had never been diagnosed with NF1, nor had any of her family members. The patient presented with unilateral, long-standing vitreous hemorrhage, significant retinal ischemia, and neovascularization. Her examination revealed typical features of NF1, including iris Lisch nodules, café-au-lait spots, and axillary freckling. Magnetic resonance imaging of the brain and orbits, along with dedicated vascular imaging, was performed, and a sectoral laser treatment was applied to the ischemic retina to prevent neovascular glaucoma.