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31. Internationaler Kongress der Deutschen Ophthalmochirurgen (DOC)

14.06. - 16.06.2018, Nürnberg

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Ophthalmologic manifestations of neurofibromatosis

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  • Kusai Almozawak - OSG MVZ Nürnberg, Nürnberg

31. Internationaler Kongress der Deutschen Ophthalmochirurgen. Nürnberg, 14.-16.06.2018. Düsseldorf: German Medical Science GMS Publishing House; 2018. DocWK 2.3

doi: 10.3205/18doc076, urn:nbn:de:0183-18doc0760

Published: June 13, 2018

© 2018 Almozawak.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

Outline

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Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are characterized by an autosomal dominant pattern of inheritance with irregular penetrance and a broad spectrum of different clinical phenotypes. There are large variations in the age of onset, progression and prognosis. Symptoms are often manifested early in childhood. Characteristics which the two main forms NF1 and NF2 have in common a positive family history, characteristic skin alterations, such as café au lait macules, axillary or inguinal freckling and neural tumors such as neurofibroma and optic glioma (NF1) as well as (bilateral) vestibular schwannomas (NF2). An interdisciplinary cooperation is necessary for the diagnostics and therapy.