Myocilin

M. P. Fautsch

doi:10.1016/B978-0-12-374203-2.00100-7

Myocilin

M. P. Fautsch

Ophthalmology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	Encyclopedia of the Eye, Four-Volume Set
Publisher	Elsevier
Pages	90-97
Number of pages	8
ISBN (Electronic)	9780123742032
ISBN (Print)	9780123741981
DOIs	https://doi.org/10.1016/B978-0-12-374203-2.00100-7
State	Published - 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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10.1016/B978-0-12-374203-2.00100-7

Cite this

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title = "Myocilin",

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.",

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KW - Aqueous humor

KW - Extracellular matrix

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KW - Intraocular pressure

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KW - Olfactomedin

KW - Primary open-angle glaucoma (POAG)

KW - Trabecular meshwork

KW - Trabecular meshwork inducible glucocorticoid response gene (TIGR)

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SN - 9780123741981

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BT - Encyclopedia of the Eye, Four-Volume Set

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ER -

Myocilin

Abstract

Keywords

ASJC Scopus subject areas

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