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Genetics of strabismus
Mayra Martinez Sanchez1,2, Mary C Whitman1,2,3
1Department of Ophthalmology, Boston Children's Hospital, Boston, MA, United States.
Insights
Genetics play a significant role in strabismus, a common childhood eye misalignment. Research is ongoing to identify specific genes contributing to this complex inherited condition.
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.
Abstract:
Strabismus, or misalignment of the eyes, is the most common ocular disorder in the pediatric population, affecting approximately 2%-4% of children. Strabismus leads to the disruption of binocular vision, amblyopia, social and occupational discrimination, and decreased quality of life. Although it has been recognized since ancient times that strabismus runs in families, its inheritance patterns are complex, and its precise genetic mechanisms have not yet been defined. Family, population, and twin studies all support a role of genetics in the development of strabismus. There are multiple forms of strabismus, and it is not known if they have shared genetic mechanisms or are distinct genetic disorders, which complicates studies of strabismus. Studies assuming that strabismus is a Mendelian disorder have found areas of linkage and candidate genes in particular families, but no definitive causal genes. Genome-wide association studies searching for common variation that contributes to strabismus risk have identified two risk loci and three copy number variants in white populations. Causative genes have been identified in congenital cranial dysinnervation disorders, syndromes in which eye movement is limited or paralyzed. The causative genes lead to either improper differentiation of cranial motor neurons or abnormal axon guidance. This article reviews the evidence for a genetic contribution to strabismus and the recent advances that have been made in the genetics of comitant strabismus, the most common form of strabismus.
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