Risk factors for exfoliation glaucoma - Current evidence and perspectives

Area of Science:

• Ophthalmology
• Genetics
• Environmental Health

Background:

• Exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) are age-related neurodegenerative conditions of the eye.
• Characterized by ocular protein-complex aggregates impacting outflow channels, leading to optic nerve damage and glaucoma.
• Associated with systemic diseases like cardiovascular issues and hypertension, suggesting multifactorial origins.

Purpose of the Study:

• To comprehensively review and evaluate the diverse risk factors implicated in XFS and XFG.
• To discuss the interactive interplay between genetic and environmental risk factors in disease onset and phenotype.
• To elucidate the complex pathogenesis of XFS and XFG, addressing remaining mysteries in disease mechanisms.

Main Methods:

• Systematic literature review of genetic and environmental risk factors for XFS and XFG.
• Analysis of studies investigating the association between XFS/XFG and systemic diseases.
• Evaluation of epigenetic mechanisms and environmental influences on gene expression in disease pathogenesis.

Main Results:

• Multiple genes have been linked to XFS and XFG.
• Significant associations found between XFS/XFG and systemic conditions including ischemic heart disease, cerebrovascular accidents, and hypertension.
• Environmental factors, potentially through epigenetic modifications, contribute to disease prevalence and pathogenesis.

Conclusions:

• The pathogenesis of XFS and XFG is complex, involving a multifactorial interplay of genetic predisposition and environmental exposures.
• Understanding these interactions is crucial for elucidating disease mechanisms and identifying potential therapeutic targets.
• Further research is needed to fully unravel the role of specific risk factors and their combined effects on disease onset and progression.