Case #58 – Neurofibromatosis Type 1

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About the Authors: David H Abramson, MD, FACS Dr. Abramson is a board-certified ophthalmologist with specialty training in ophthalmic oncology and is the Chief of the Ophthalmic Oncology Service at Memorial Sloan Kettering Cancer Center. He treats patients with intraocular tumors such as: uveal melanoma and retinoblastoma and our patients have access to

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About the Authors:Jasmine H Francis, MD, FACSDr. Francis is a board-certified ophthalmologist with specialty training in ophthalmic oncology and is an Associate Attending at Memorial Sloan Kettering Cancer Center. She sees patients with intraocular cancers such as uveal melanoma, lymphoma and retinoblastoma. She also participates in an interdisciplinary effort at Memorial Sloan Kettering to treat

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About the Authors:Julia Canestraro, OD, FAAOInstructor, Ophthalmic Oncology Service, Memorial Sloan Kettering Cancer CenterDr. Canestraro is an Instructor at Memorial Sloan Kettering Cancer Center, Ophthalmic Oncology Service. She has experience in the diagnosis and non-surgical management of ocular disease, including ocular tumors. She also specializes in treating the ocular consequences of cancer and its treatments.

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ReferencesAbdolrahimzadeh et al., Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1. Br. J Ohthalmol. 2015;99:789-793Yasunari T, Shiraki H, Hattori K, Miki T. Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet. 2000;356:988–992Cassiman et al. Optical Coherence Tomography Angiography of retinal microvascular changes overlying choroidal nodules in neurofibromatosis type 1.

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Take home message:Next time you see an undiagnosed patient that has iris lesions suspicious for Lisch nodules, obtain an OCT and look for these hyper-reflectant lesions. Their presence may push you to send the patient for further evaluation and work-up with a neurologist to rule out NF1.It is important to note that we don’t know

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The pathophysiology of these hyper-reflective lesions is not quite understood but there are a few hypotheses:Areas of delayed perfusion to the choroid as evidenced with hypofluoresence with indocyanine green.2 Although more recent imaging with optical coherence tomography angiography (OCT-A) reveals these lesions are not associated with flow loss or ischemia in the superficial or deep

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Patient #3   Heidelberg Spectralis® IR of the right and left eyes (top black and white images) with corresponding Optos California® fundus images (bottom color images)

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Patient #2 Heidelberg Spectralis® IR of the right and left eyes (top black and white images) with corresponding Optos California® fundus images (bottom color images)

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Case Report: Patient #3 (62 yo F) BCVA 20/20 OD/OS (+) Lisch nodules OU Heidelberg Spectralis® EDI-OCT of the right (top) and left (bottom) eyes Reports in the literature describe hyper-reflectant lesions seen with infra-red (IR) imaging, in patients with NF1. Below are the hyper-reflectant lesions marked

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Case Report: Patient #2 (47 yo F): BCVA 20/20 OD/OS (+) Lisch nodules OU optic nerve glioma OD Heidelberg Spectralis® EDI-OCT of the right (top) and left (bottom) eyes

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