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

Exp Eye Res. 2017 Jan;154:88-103. doi: 10.1016/j.exer.2016.11.011. Epub 2016 Nov 11.


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.

Publication types

  • Review

MeSH terms

  • Amino Acid Oxidoreductases / genetics
  • Amino Acid Oxidoreductases / metabolism
  • Calcium Channels / genetics
  • Calcium Channels / metabolism
  • Exfoliation Syndrome* / epidemiology
  • Exfoliation Syndrome* / genetics
  • Exfoliation Syndrome* / metabolism
  • Genetic Markers / genetics*
  • Global Health
  • Homocysteine / metabolism*
  • Humans
  • Molecular Biology / methods*
  • Morbidity / trends
  • Polymorphism, Genetic*
  • Transforming Growth Factor beta1 / metabolism*


  • CACNA1A protein, human
  • Calcium Channels
  • Genetic Markers
  • Transforming Growth Factor beta1
  • Homocysteine
  • Amino Acid Oxidoreductases
  • LOXL1 protein, human