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

Der Nervenarzt
Frank HanischS Zierz

Abstract

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.

References

Jun 1, 1978·American Journal of Ophthalmology·L Apt, R N Axelrod
Mar 1, 1977·Archives of Neurology·M M OkihiroB K Bennett
Jan 1, 1986·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·W A HoutmanT U Hoogenraad
Mar 1, 1974·The British Journal of Ophthalmology·A Huber
May 1, 1980·Archives of Ophthalmology·M G HotchkissW R Green
Sep 1, 1996·Muscle & Nerve·S JaradehR J Konkol
Nov 3, 1998·The British Journal of Ophthalmology·A C ReckE Hatchwell
Mar 11, 2000·Ophthalmology·M ChungM S Borchert
Jun 20, 2002·Human Genetics·David A MackeyElizabeth C Engle
Sep 5, 2002·American Journal of Ophthalmology·Irene GottlobElizabeth C Engle
Oct 24, 2002·Human Molecular Genetics·Jürgen KohlhaseWilliam Reardon
Oct 24, 2002·American Journal of Human Genetics·Raidah Al-BaradieElizabeth C Engle
Apr 19, 2003·BMC Ophthalmology·Adriano MagliVincenzo Gagliardi
Jun 24, 2003·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Christina PiehIrene Gottlob
Mar 1, 1956·American Journal of Ophthalmology·R C LAUGHLIN

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Citations

May 11, 2010·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·R MichelsK Landau
May 15, 2013·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·S PitzS Zierz
Jun 9, 2006·Strabismus·Benedikt G H Schoser, Dieter Pongratz
Jun 25, 2009·European Journal of Ophthalmology·Guenther RudolphAlfons Meindl
Jul 2, 2010·Seminars in Ophthalmology·Ana Rosa Pimentel de Figueiredo
Apr 14, 2016·Current Neurology and Neuroscience Reports·Collin McClellandMichael S Lee

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