Ophthalmological issues in the neurofibromatoses.
The neurofibromatoses are a set of at least two distinct disorders characterized by the development of nerve sheath tumors and diverse other features. Both are genetically determined as autosomal dominant traits, and both genes have been identified, with resultant major insights into pathogenesis. The neurofibromatoses have prominent effects on the visual system, which are important both for diagnosis and clinical management. This review focuses on clinical aspects of the neurofibromatoses, highlighting ophthalmological issues and recent advances in molecular genetics.
Korf
B R
BR
Department of Neurology, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008967:Molecular Biology / Q000379:methods; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D014792:Visual Acuity