A Case for Increasing the Significance of Choroidal Abnormalities in Ophthalmic Assessment of Neurofibromatosis Type 1

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Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder linked to various ocular manifestations, including optic nerve gliomas, prominent corneal nerves, neurofibromas, secondary glaucoma, astrocytomas, choroidal nevi, and Lisch nodules. The identification of choroidal abnormalities (CAs) has gained attention as a significant ocular feature of NF1. This case report highlights a patient with NF1 whose sole ocular manifestation was the presence of CAs. The CAs were visible on optic coherence tomography (OCT) and near-infrared reflectance (NIR) imaging.

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