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Die kongenitale Fibrose der äußeren Augenmuskeln (CFEOM) und andere Phänotypen der kongenitalen kranialen Dysinnervationssyndrome (CCDD)

Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)

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Zusammenfassung

Seit kurzem werden verschiedene Syndrome mit kongenitalen, nicht progressiven, sporadisch oder familiär auftretenden Entwicklungsstörungen im Bereich der Hirnnerven und in deren Kerngebieten in der Klassifikation der sog. kongenitalen kranialen Dysinnervationssyndrome (CCDD) zusammengefasst. Eines dieser Syndrome, die kongenitale Fibrose der äußeren Augenmuskeln (CFEOM) ist durch eine meist bilaterale Ophthalmoplegie der vom N. oculomotorius und/oder N. trochlearis innervierten Muskulatur charakterisiert. Im Rahmen einer Übersicht über die CCDD wird die Kasuistik eines 60-jährigen Patienten mit CFEOM vom Typ 1 mit autosomal-dominantem Erbgang und typischem Phänotyp präsentiert, dessen okuläre Symptome jedoch progredient waren. Ursächlich war eine für die CFEOM1 typische C2860→T Mutation im Exon 21 des KIF21A-Gens auf dem Chromosom 12. Weitere CCDD-Syndrome umfassen folgende Phänotypen: die kongenitale Ptosis, das Duane-Syndrom, die horizontale Blickparese mit progressiver Skoliose, die kongenitale Fazialisparese sowie das Möbius-Syndrom. Bislang sind 13 verschiedene Genloci bekannt, die einen dieser Phänotypen aufweisen. Die bislang identifizierten Genprodukte umfassen das Kinesin-Motorprotein Kif21a, den Homeodomänen-Transkriptionsfaktor ARIX, die Carboxypeptidase CPAH und den Zinkfinger-Transkriptionsfaktor SALL4.

Summary

Currently, different syndromes with congenital, nonprogressive, sporadic, or familial developmental abnormalities of the cranial nerves and its nuclei are classified as congenital cranial dysinnervation syndromes (CCDD). One of these syndromes, congenital fibrosis of extraocular muscles (CFEOM), is characterized mainly by bilateral ophthalmoplegia of the oculomotor and trochlear nerves. Within the scope of an overview, the case of a 60-year-old patient with congenital fibrosis of extraocular muscles type 1 (CFEOM1) with autosomal dominant inheritance and typical phenotype, but additional progression of the ocular symptoms, is presented. Symptoms were caused by the common C2860→T mutation in exon 21 of the KIF21A gene on chromosome 12. Further CCDD syndromes include the following phenotypes: congenital ptosis, Duane syndrome, horizontal gaze palsy, Möbius’ syndrome, and congenital facial palsy. There are 13 different known gene loci for one of these phenotypes. Five gene products have been identified: the kinesin motor protein Kif21a, the transcription factors ARIX and SALL4, and the carboxypeptidase CPAH.

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Authors and Affiliations

  1. Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Halle/Saale

    Frank Hanisch & Stephan Zierz

  2. Klinik und Poliklinik für Augenheilkunde, Martin-Luther-Universität Halle-Wittenberg, Halle/Saale

    Viktoria Bau

  3. Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube Straße 40, 06097, Halle/Saale, Deutschland

    Frank Hanisch

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Correspondence to Frank Hanisch.

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Hanisch, F., Bau, V. & Zierz, S. Die kongenitale Fibrose der äußeren Augenmuskeln (CFEOM) und andere Phänotypen der kongenitalen kranialen Dysinnervationssyndrome (CCDD). Nervenarzt 76, 395–402 (2005). https://doi.org/10.1007/s00115-004-1742-3

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