Related Experiment Video
Updated: Apr 5, 2026
An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
ISCHEMIC RETINOPATHY IN NEUROFIBROMATOSIS TYPE 1
Kunal K Dansingani1, Jesse J Jung, Irina Belinsky
1*Vitreous Retina Macula Consultants of New York, New York, New York; †LuEsther T. Mertz Retinal Research Center, Manhattan Eye Ear and Throat Hospital, New York, New York; ‡Moorfields Eye Hospital, London, United Kingdom; §Department of Ophthalmology, New York University School of Medicine, New York, New York; ¶Edward S. Harkness Eye Institute, Columbia University College of Physicians and Surgeons, New York, New York; and **Ophthalmic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, New York.
Purpose:
To describe a patient with severe ischemic retinopathy and maculopathy in the context of neurofibromatosis Type 1.
Methods:
Case report illustrated with multimodal clinical imaging. A 16-year-old female with neurofibromatosis Type 1 presented with visual deterioration over several weeks. Her right eye was amblyopic because of an optic nerve glioma treated in childhood with chemotherapy.
Results:
Corrected visual acuities were counting fingers in the right eye and 20/150 in the left eye. Examination revealed bilateral optic disk pallor. In the left eye, severe and extensive ischemic retinopathy and maculopathy were noted with collateral formation and neovascularization. Proximal arterial occlusion at the level of the internal carotid and ophthalmic arteries was excluded on neuroimaging, including computed tomography angiography.
Conclusion:
Neurofibromatosis Type 1 may present in the ocular fundus with a variety of lesion types, including vasoproliferative tumors, hamartoma, uveal melanoma, and hemangioma. Vascular occlusions are relatively uncommon. Ocular ischemic syndrome secondary to moyamoya syndrome is well described in neurofibromatosis Type 1 but was excluded in our patient. A spectrum of retinal microvascular abnormalities has also been described, but disease-specific evidence to guide treatment is lacking.
