Congenital cranial dysinnervation disorders: a concept in evolution

Curr Opin Ophthalmol. 2013 Sep;24(5):398-406. doi: 10.1097/ICU.0b013e3283645ad6.


Purpose of review: We review the congenital and genetic diagnoses that are currently included in the congenital cranial dysinnervation disorders (CCDDs).

Recent findings: Recent literature contains new genotypic and phenotypic descriptions of Duane retraction syndrome, Moebius syndrome, and other CCDDs. New genes which when mutated can result in CCDD have been identified, permitting a better understanding of associated phenotypes. More information is available regarding neurodevelopmental and clinical effects of various gene mutations associated with individual CCDDs. For certain CCDDs, the phenotype of a particular individual may not completely predict the genotype, and conversely, the genotype may not always predict the phenotype.

Summary: The CCDD concept has focused attention on specific congenital disturbances of human ocular motility and on the fact that these disorders are typically neurogenic in origin. The past decade has seen rapid evolution within this field with the last 2 years yielding additional information about existing diagnoses, genes, and phenotypes that may result in better classification of these disorders and new genotype-phenotype correlations in the future.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cranial Nerves / abnormalities*
  • Duane Retraction Syndrome / genetics
  • Fibrosis / congenital
  • Fibrosis / genetics
  • Humans
  • Mobius Syndrome / genetics
  • Ocular Motility Disorders* / congenital
  • Ocular Motility Disorders* / genetics
  • Oculomotor Muscles / innervation*
  • Oculomotor Muscles / pathology

Supplementary concepts

  • Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence