Ophthalmic manifestations in neurofibromatosis type 1

Survey of Ophthalmology
Michael KinoriJanice Lasky Zeid

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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Dec 5, 2018·American Journal of Medical Genetics. Part a·Roee BirnbaumDorit Lev
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Jul 3, 2021·Cancers·Laurence PacotEric Pasmant
Apr 14, 2020·American Journal of Ophthalmology·Michael KinoriJanice Lasky Zeid

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