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Genetics of strabismus.

Mayra Martinez Sanchez1,2, Mary C Whitman1,2,3

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Strabismus, or eye misalignment, is the most common ocular disorder in children, affecting 2%-4%.
  • It disrupts binocular vision, potentially leading to amblyopia and impacting quality of life.
  • While familial links are known, the complex inheritance patterns and genetic mechanisms of strabismus remain largely undefined.

Purpose of the Study:

  • To review the evidence supporting a genetic contribution to strabismus.
  • To highlight recent advances in understanding the genetics of comitant strabismus, the most prevalent form.

Main Methods:

  • Review of family, population, and twin studies.
  • Analysis of linkage studies and candidate gene identification.
  • Examination of genome-wide association studies (GWAS) and copy number variant (CNV) analysis.
  • Inclusion of findings from congenital cranial dysinnervation disorders.

Main Results:

  • Genetic factors are strongly supported by family, population, and twin studies.
  • Previous studies have identified linkage regions and candidate genes but no definitive causal genes for general strabismus.
  • GWAS studies have identified two risk loci and three CNVs in white populations.
  • Causative genes identified in related disorders (congenital cranial dysinnervation disorders) affect neuronal development and axon guidance.

Conclusions:

  • Genetics significantly contributes to strabismus development.
  • Further research is needed to elucidate the specific genetic underpinnings of various strabismus forms, particularly comitant strabismus.
  • Understanding genetic mechanisms is crucial for future diagnostic and therapeutic strategies.