Congenital cranial dysinnervation disorders

T. M. Bosley, D. T. Oystreck, K. K. Abu-Amero

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Certain individuals are born with nonprogressive ocular motility disturbances with variable appearance, but sharing the characteristic that some, or all, of the extraocular muscles are small, tight, and fibrotic, often causing restriction of motility on forced ductions and retraction of the globe on eye movement. These disorders were initially called congenital fibrosis of the extraocular muscles, but, in 2002, the term congenital cranial dysinnervation disorders (CCDDs) was suggested because of the evidence that these problems were most commonly neurogenic in origin rather than myopathic. This article reviews the CCDD disorders with currently proven genetic causes.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Eye
PublisherElsevier
Pages346-355
Number of pages10
ISBN (Electronic)9780123742032
ISBN (Print)9780123741981
DOIs
StatePublished - Jan 1 2010
Externally publishedYes

Keywords

  • Brain development
  • Brainstem
  • Congenital cranial dysinnervation disorders
  • Congenital fibrosis of the extraocular muscles
  • Duane retraction syndrome
  • Extraocular muscles
  • HOXA1 spectrum disorders
  • Horizontal gaze palsy and progressive scoliosis
  • Moebius syndrome
  • Orbit

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Bosley, T. M., Oystreck, D. T., & Abu-Amero, K. K. (2010). Congenital cranial dysinnervation disorders. In Encyclopedia of the Eye (pp. 346-355). Elsevier. https://doi.org/10.1016/B978-0-12-374203-2.00278-5