A patient with loss of vision in the right eye and neurofibromatosis type 1.
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.
Mumoli
Nicola
N
Department of Internal Medicine, Ospedale Civile, viale Alfieri 36, Livorno, Italy. nimumoli@tiscali.it
Cei
Marco
M
Bartolomei
Carlo
C
Pirillo
Vania
V
D000368:Aged; D001766:Blindness / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology*; D020339:Optic Nerve Glioma / Q000209:etiology* / Q000473:pathology