The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease

Semin Ophthalmol. Sep-Nov 2013;28(5-6):427-37. doi: 10.3109/08820538.2013.825288.

Abstract

In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Duane Retraction Syndrome / genetics*
  • Eye Diseases, Hereditary / genetics
  • Fibrosis
  • Homeodomain Proteins / genetics
  • Humans
  • Mobius Syndrome / genetics*
  • Ophthalmoplegia
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Scoliosis / genetics*
  • Strabismus / genetics*
  • Transcription Factors / genetics

Substances

  • HOXB1 homeodomain protein
  • Homeodomain Proteins
  • Transcription Factors
  • homeobox A1 protein

Supplementary concepts

  • Congenital Fibrosis of the Extraocular Muscles
  • Gaze Palsy, Familial Horizontal, with Progressive Scoliosis