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Ocular and systemic manifestations of exfoliation syndrome.

Abstract
Exfoliation syndrome is an age-related disease characterized by the production and progressive accumulation of a fibrillar extracellular material in many ocular tissues. It leads to the most common identifiable cause of open-angle glaucoma worldwide, comprising the majority of glaucoma in some countries. The material in the eye appears as white deposits on the anterior lens surface and/or pupillary border. During pupillary movement, the iris scrapes exfoliation material from the lens surface, while the material on the lens causes rupture of iris pigment epithelial cells, with concomitant pigment dispersion into the anterior chamber and its deposition on anterior chamber structures. Exfoliation material can be found in many different organs. It is an ischemic disease and is associated with elevated serum homocysteine. Systemic associations include transient ischemic attacks, hypertension, angina, myocardial infarction, cerebrovascular and cardiovascular disease, aortic aneurysm, Alzheimer disease, and hearing loss. The discovery in 2007 of nonsynonymous single nucleotide polymorphisms in the LOXL1 (lysyl oxidase-like 1) gene are expected to make a major impact not only in understanding exfoliation syndrome, but in leading to new avenues of therapy.
AuthorsRobert Ritch
JournalJournal of glaucoma (J Glaucoma) 2014 Oct-Nov Vol. 23 Issue 8 Suppl 1 Pg. S1-8 ISSN: 1536-481X [Electronic] United States
PMID25275896 (Publication Type: Journal Article, Review)
Chemical References
  • Amino Acid Oxidoreductases
  • LOXL1 protein, human
Topics
  • Age Distribution
  • Amino Acid Oxidoreductases (genetics)
  • Exfoliation Syndrome (complications, diagnosis, genetics, metabolism)
  • Glaucoma, Open-Angle (diagnosis, etiology, metabolism)
  • Humans
  • Intraocular Pressure
  • Iris (metabolism)
  • Lens, Crystalline (metabolism)
  • Polymorphism, Single Nucleotide
  • Prevalence
  • Risk Factors
  • Sex Distribution

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