Strabismus genetics across a spectrum of eye misalignment disorders

Clin Genet. 2014 Aug;86(2):103-11. doi: 10.1111/cge.12367. Epub 2014 Mar 26.


Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing to non-syndromic strabismus remain elusive. Genetic testing for strabismus risk may allow for earlier diagnosis and treatment, as well as decreased frequency of surgery. We review human and model organism literature describing non-syndromic strabismus, including family, twin, linkage, and gene expression studies. Recent advances in the genetics of Duane retraction syndrome are considered, as relatives of those impacted show elevated familial rates of non-syndromic strabismus. As whole genome sequencing efforts are advancing for the discovery of the elusive strabismus genes, this overview is intended to support the interpretation of the new findings.

Keywords: Duane retraction syndrome; genetics; linkage analysis; non-syndromic strabismus.

Publication types

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

MeSH terms

  • Animals
  • Disease Models, Animal
  • Duane Retraction Syndrome / genetics
  • Genetic Linkage
  • Humans
  • Risk Factors
  • Strabismus / etiology
  • Strabismus / genetics*
  • Twin Studies as Topic