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CMAJ. 2009 Jan 20;180(2):203-6. doi: 10.1503/cmaj.080706.

A patient with loss of vision in the right eye and neurofibromatosis type 1.

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  • 1Department of Internal Medicine, Ospedale Civile, viale Alfieri 36, Livorno, Italy.


Neurofibromatosis type 1 is a common autosomal dominant condition that affects about 1 in 5000 people. We describe a 75-year-old man who, in addition to many classic developmental changes of the disease in his skin, eyes and nervous system, had blindness in his right eye as a complication.

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