Pseudoexfoliation syndrome is characterized by the presence of an abnormal fibrillar material that can be visualized on various structures in the anterior segment. Disease-associated genetic variants in lysyl oxidase like 1 (LOXL1) are present in up to 99% of cases and 80% of controls. This enzyme is involved in elastin metabolism. The abnormal fibrillar material may impair aqueous humor outflow. In addition, elastin is an important component of the lamina cribrosa, where an abnormality in elastin function may result in increased susceptibility to injury. Other factors, including environmental factors such as sun exposure and low ambient temperature, are thought to contribute to the risk of developing the disease.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.