Abstract
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.
MeSH terms
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Ataxia Telangiectasia / diagnosis
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Ataxia Telangiectasia / genetics
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Brain Diseases / diagnosis*
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Brain Diseases / genetics
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Eye Diseases / diagnosis*
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Eye Diseases / genetics
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Humans
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Neurocutaneous Syndromes / diagnosis*
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Neurocutaneous Syndromes / genetics
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Neurofibromatosis 1 / diagnosis
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Neurofibromatosis 1 / genetics
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Neurofibromatosis 2 / diagnosis
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Neurofibromatosis 2 / genetics
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Tuberous Sclerosis / diagnosis
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Tuberous Sclerosis / genetics
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von Hippel-Lindau Disease / diagnosis
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von Hippel-Lindau Disease / genetics