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DOI: 10.1055/s-2005-857956
© Georg Thieme Verlag KG Stuttgart · New York
NF2: Okuläre, neurale und genetische Befunde
NF2: Ocular, Neural and Genetic ManifestationsPublication History
Eingegangen: 13.8.2004
Angenommen: 7.12.2004
Publication Date:
21 April 2005 (online)
![](https://www.thieme-connect.de/media/klimo/200504/lookinside/thumbnails/10.1055-s-2005-857956-1.jpg)
Zusammenfassung
Die Neurofibromatose 2 ist eine autosomal-dominat vererbte Erkrankung, die durch Akustikusneurinome, Katarakt, retinale Hamartome sowie Tumoren des peripheren und zentralen Nervensystems charakterisiert ist und deren Ausprägung sehr variiert. Für die Diagnose spielt der Ophthalmologe eine zentrale Rolle, weil verschiedene okuläre Symptome der NF2 bereits im Kindesalter festzustellen sind, bevor Tumorbildung im Bereich des zentralen Nervensystems symptomatisch wird. Der frühzeitige Nachweis der Akustikusneurinome erlaubt bei einer Vielzahl der Betroffenen eine hörerhaltende operative Intervention. Durch die Progredienz der krankheitsimminenten und sekundäre krankheits- sowie altersbedingte Affektionen des Auges verlieren die Patienten die Reize verschiedener Sinnessysteme, die das Hören, das Sehen und das zentrale und periphere Nervensystem betreffen: Gleichgewichtsstörung, Verlust der Muskelkraft und -kontrolle durch periphere Neuropathie. Therapeutische Ansätze sind chirurgisch wie Kataraktoperation, Implantation von Cochlea- oder Hirnstamm-Implants, aber auch konservativ wie Oberflächentherapie des Auges bei Fazialisparese oder das Erlernen des Lippenablesens. Das menschliche NF2-Gen wurde 1993 aus dem Chromosom 22 kloniert. Der größte Teil der bisher beschriebenen genetischen Änderungen des NF2-Gens sind Punktmutationen und kleine Deletionen/Insertionen in oder um die Exons. Dabei erlauben die bestehenden Geno-Phänotyp-Korrelationen gewisse Vorhersagen über den Verlauf der Erkrankung.
Abstract
Neurofibromatosis 2 is an autosomal-dominant disease, which is characterized by vestibular schwannomas, cataract, retinal hamartomas as well as tumors of the peripheral and central nerve system, demonstrating a variety of expression. The ophthalmologist plays an important role in making the diagnosis, as several ocular manifestations may be shown during childhood, before tumors of the central nerve system become symptomatic. An early diagnosis of NF 2 may prevent deafness by early surgical intervention. Due to primary and secondary reasons such as age-related processes, different sensations like hearing or vision may be compromised. Neuropathy may lead to vestibular disturbances and loss of muscle control. Therapeutic options include cataract surgery, implantation of cochlear or brainstem implants as well as conservative therapy of the ocular surface in paresis of the VIIth cranial nerve or learning to read from the lips. The human NF2 gene was cloned from chromosome 22 in 1993. The major part of the genetic alterations described so far are point mutations as well as deletions or insertions in or around the exons. Geno-phenotype correlations allow some predictions of the course of the disease to be made.
Schlüsselwörter
Neurofibromatose 2 - vestibuläre Schwannome - Katarakt - Hamartome - Verlaufsform - Mosaikbildung
Key words
Neurofibromatosis 2 - vestibular schwannoma - cataract - hamartoma - course of the disease - mosaicism
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Dr. med. Matthias Feucht
Universitäts-Augenklinik Hamburg-Eppendorf
Martinistraße 52
20246 Hamburg
Phone: ++ 49/40/4 28 03 23 01
Fax: ++ 49/40/4 28 03 49 06
Email: matthiasfeucht@gmx.de