Neuro-ophthalmic features of the neurocutaneous syndromes.
This review highlights the diagnostic criteria and neuro-ophthalmic symptoms and signs of the more commonly seen neurocutaneous disorders, including NF1 and NF2, tuberous sclerosis, VHL disease, Sturge-Weber disease, and AT. The distinct neuro-ophthalmic features in each of these hereditary and congenital disorders play an important role in clinical diagnosis.
Department of Medicine, Division of Neurology, University of Nevada School of Medicine, 1000 Locust Street 111, Reno, NV 89502, USA.
Jane W
JW
Chan
D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics