Myocilin

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Hereditary influences have long been considered a component in the etiology of glaucoma, considering that relatives of individuals clinically diagnosed with juvenile open-angle glaucoma (JOAG) and primary open-angle glaucoma (POAG) have a higher incidence of the disease. The first described gene with an association to JOAG and POAG was myocilin, a 504-amino-acid glycoprotein. Mutations within myocilin are associated with up to 36% of JOAG and 4% of POAG cases. The function of myocilin in normal or glaucoma eyes is unknown.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Eye
PublisherElsevier
Pages90-97
Number of pages8
ISBN (Electronic)9780123742032
ISBN (Print)9780123741981
DOIs
StatePublished - Jan 1 2010

Keywords

  • Anterior segment
  • Aqueous humor
  • Extracellular matrix
  • Glaucoma
  • Intraocular pressure
  • Juvenile open-angle glaucoma (JOAG)
  • Myocilin
  • Olfactomedin
  • Primary open-angle glaucoma (POAG)
  • Trabecular meshwork
  • Trabecular meshwork inducible glucocorticoid response gene (TIGR)

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Fautsch, M. P. (2010). Myocilin. In Encyclopedia of the Eye (pp. 90-97). Elsevier. https://doi.org/10.1016/B978-0-12-374203-2.00100-7