Strabismus genetics across a spectrum of eye misalignment disorders

Area of Science:

• Genetics
• Ophthalmology
• Developmental Biology

Background:

• Strabismus (eye misalignment) is a common condition, affecting up to 5% of the population.
• While genetic causes for syndromic strabismus are known, genes for non-syndromic forms remain largely undiscovered.
• Early diagnosis and treatment of strabismus can improve outcomes and reduce the need for surgery.

Purpose of the Study:

• To review current literature on the genetics of non-syndromic strabismus.
• To explore recent advances in understanding Duane retraction syndrome and its genetic links.
• To provide a framework for interpreting new findings from whole genome sequencing efforts in strabismus research.

Main Methods:

• Review of human and model organism literature.
• Analysis of family, twin, and linkage studies.
• Examination of gene expression data related to strabismus.

Main Results:

• The genetic underpinnings of non-syndromic strabismus are not yet fully elucidated.
• Duane retraction syndrome research offers insights into familial strabismus.
• Advancements in whole genome sequencing are poised to accelerate gene discovery.

Conclusions:

• Identifying genes for non-syndromic strabismus is a critical unmet need.
• Genetic insights can inform earlier diagnosis, personalized treatment, and potentially reduce surgical interventions.
• This review supports the interpretation of emerging genetic data in strabismus.