Exfoliation syndrome: new genetic and pathophysiologic insights

Abstract

Purpose of review: Exfoliation syndrome is the most common identifiable cause of glaucoma in the world. It has been associated with many ocular problems, such as secondary open angle glaucoma, corneal dysfunction, cataract, and zonular weakness, and may have systemic manifestations as well. This review focuses on recent genetic and pathophysiologic discoveries in the disease process.

Recent findings: Exfoliation syndrome is a progressive age-related condition of the extracellular matrix (ECM), which has various ocular implications, most notably open angle glaucoma, zonular abnormalities, and cataract formation. The pathophysiology behind exfoliation syndrome appears to involve both genetic and environmental components. The underlying genetic mechanisms are thought to be due to disruption of regulatory genes (lysyl oxidase-like and clusterin) that are involved in both the production and the breakdown of ECM material. Disease manifestations involve the accumulation and deposition of ECM fibrils throughout the eye thought to be engendered by an increased oxidative stress state.

Summary: A greater understanding of the genetic and pathophysiologic mechanisms underlying the disease may lead to the development of new approaches in its treatment and management.