Ophthalmic manifestations in neurofibromatosis type 1

Kinori, M.; Hodgson, N.; Zeid, J. L.

Surv Ophthalmol. 2017 Oct 31


Neurofibromatosis type 1 (NF1) is a relatively common multisystemic inherited disease and has been extensively studied by multiple disciplines. While 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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