Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

Abstract

Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of extracellular fibrillar material throughout the body. The most recognized disease manifestation is exfoliation glaucoma (XFG), which is a common cause of blindness worldwide. Recent developments in XFS genetics, cell biology and epidemiology have greatly improved our understanding of the etiology of this complex inherited disease. This review summarizes current knowledge of XFS pathogenesis, identifies gaps in knowledge, and discusses areas for future research.

Keywords: CACNA1A; Exfoliation syndrome; GWAS; Gene-environment interaction; Glaucoma; Homocysteine; LOXL1; Pseudoexfoliation; TGF-β1.