gms | German Medical Science

102. Jahrestagung der DOG

Deutsche Ophthalmologische Gesellschaft e. V.

23. bis 26.09.2004, Berlin

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Congenital fibrosis of extraocular muscles type 1 (CFEOM1) with progression of ophthalmoplegia and ptosis

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  • corresponding author F. Hanisch - Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg
  • V. Bau - Klinik und Poliklinik für Ophthalmologie, Martin-Luther-Universität Halle-Wittenberg
  • S. Zierz - Klinik und Poliklinik für Neurologie, Martin-Luter-Universität Halle-Wittenberg

Evidenzbasierte Medizin - Anspruch und Wirklichkeit. 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft. Berlin, 23.-26.09.2004. Düsseldorf, Köln: German Medical Science; 2004. Doc04dogFR.10.07

The electronic version of this article is the complete one and can be found online at: http://www.egms.de/en/meetings/dog2004/04dog253.shtml

Published: September 22, 2004

© 2004 Hanisch et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.

Outline

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Objective

Congenital fibrosis of the extraocular muscles type 1 (CFEOM 1) is a developemental disorder characterized by a congenital non-progressive bilateral external oculomotoric nerve palsy with ptosis and autosomal-dominant inheritance due to mutations in the KIF21A gene, encoding a kinesin motor protein.

Results

Serial sections over 23 years in a 60-year old patient with the common C2860T mutation in the KIF21A gene revealed not only congenital, but additional further progressive bilateral external ophthalmoplegia and ptosis. Clinical examination and electromyographic examination of the extraocular muscles showed isolated involvement and aberrant innervation of residual oculomotoric nerve fibers. Additional abnormalities as pes cavus, a slight kyphoscoliosis, and neurogenic EMG pattern in 2 of 5 muscles might reflect a more widespread involvement of α-motoneurons due to the KIF21A mutation.

Conclusions

Progredient chronic external ophthalmoplegia might be caused by either a continuous disease progression due to the kinesin defect or the consequence of an overuse of the reduced number of oculomotoric brain stem α-motoneurons.