title: 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.
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
authors.forename: Inas F
authors.initials: IF
authors.lastname: Aboobakar
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
authors.forename: William M
authors.initials: WM
authors.lastname: Johnson
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
authors.forename: W Daniel
authors.initials: WD
authors.lastname: Stamer
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA. Electronic address: rand.allingham@duke.edu.
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics / Q000378:metabolism; D015220:Calcium Channels / Q000235:genetics / Q000378:metabolism; D017889:Exfoliation Syndrome / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D005819:Genetic Markers / Q000235:genetics*; D014943:Global Health; D006710:Homocysteine / Q000378:metabolism*; D006801:Humans; D008967:Molecular Biology / Q000379:methods*; D009017:Morbidity / Q000639:trends; D011110:Polymorphism, Genetic; D053773:Transforming Growth Factor beta1 / Q000378:metabolism*; D020864:Calcium Channels, N-Type
chemical_list: D000594:Amino Acid Oxidoreductases; D015220:Calcium Channels; D005819:Genetic Markers; D006710:Homocysteine; D053773:Transforming Growth Factor beta1; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C445313:LOXL1 protein, human
keywords: CACNA1A; Exfoliation syndrome; GWAS; Gene-environment interaction; Glaucoma; Homocysteine; LOXL1; Pseudoexfoliation; TGF-β1