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

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.

KIF21A variant R954W in Familial or Sporadic Cases of CFEOM1

“…org/research/engle). The clinical and genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis is summarized under a new entity of diseases, the congenital cranial dysinnervation disorders (CCDDs) (5,14,15). CFEOM represents one of these diseases.…”