Clinical review of neurofibromatosis.
Neurofibromatosis (NF), also known as von Recklinghausen's disease, is a prevalent genetic disorder--as common as cystic fibrosis and Down's syndrome and twice as prevalent as muscular dystrophy; it occurs in approximately one of 3000 live births. NF often involves the eyes and visual pathways; many NF patients first present early in life because of ocular complaints. But, because mental retardation can be a complication of the disease, such patients are difficult to examine and, as a result, the disease is sometimes not recognized. The purpose of this paper is to provide an overview of the condition along with a case report of an eight year old child with NF.
Rosner
J
J
College of Optometry, University of Houston, TX.
D002648:Child; D003390:Cranial Nerve Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000532:radiotherapy; D005910:Glioma / Q000175:diagnosis; D006222:Hamartoma / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000532:radiotherapy; D009897:Optic Chiasm; D009900:Optic Nerve / Q000503:physiopathology; D011379:Prognosis; D014792:Visual Acuity