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  • Title: Ophthalmic manifestations in neurofibromatosis type 1.
    Author: Kinori M, Hodgson N, Zeid JL.
    Journal: Surv Ophthalmol; 2018; 63(4):518-533. PubMed ID: 29080631.
    Abstract:
    Neurofibromatosis type 1 (NF1) is a relatively common multisystemic inherited disease and has been extensively studied by multiple disciplines. Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis. Many manifestations of NF1 involve the eye and orbit, and the ophthalmologist, therefore, plays a significant role in the diagnosis and treatment of NF1 patients. Improvements in diagnostic and imaging instruments have provided new insight to study the ophthalmic manifestations of the disease. We provide a comprehensive and up-to-date overview of the ocular and orbital manifestations of NF1.
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