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

• Published in: Experimental eye research 2017-01, Vol.154, p.88-103
• Main Authors: Aboobakar, Inas F., Johnson, William M., Stamer, W. Daniel, Hauser, Michael A., Allingham, R. Rand
• Format: Article
• Language: English
• Subjects: Amino Acid Oxidoreductases - genetics; Amino Acid Oxidoreductases - metabolism; CACNA1A; Calcium Channels - genetics; Calcium Channels - metabolism; Exfoliation syndrome; Exfoliation Syndrome - epidemiology; Exfoliation Syndrome - genetics; Exfoliation Syndrome - metabolism; Gene-environment interaction; Genetic Markers - genetics; Glaucoma; Global Health; GWAS; Homocysteine; Homocysteine - metabolism; Humans; LOXL1; Molecular Biology - methods; Morbidity - trends; Polymorphism, Genetic; Pseudoexfoliation; TGF-β1; Transforming Growth Factor beta1 - metabolism
• ISSN: 0014-4835; 1096-0007
• DOI: 10.1016/j.exer.2016.11.011

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. •Exfoliation glaucoma (XFG) is the most common secondary form of glaucoma worldwide.•Exfoliation syndrome (XFS) is increasingly associated with non-ocular systemic disorders.•The LOXL1 and CACNA1A loci are associated with XFG but not other forms of glaucoma.•Abnormal levels of TGF-β1 and homocysteine are consistently present in XFS.•Environmental factors, including UV exposure, geography, and diet may influence XFS risk.