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Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLCIA)

Citation

Alward, WLM and Fingert, JH and Coote, MA and Johnson, T and Lerner, SF and Junqua, D and Durcan, FJ and McCartney, PJ and Mackey, DA and Stone, EM and Sheffield, VC, Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLCIA), The New England Journal of Medicine, 338, (15) pp. 1022-1027. ISSN 0028-4793 (1998) [Refereed Article]

DOI: doi:10.1056/NEJM199804093381503

Abstract

Background - A substantial proportion of cases of glaucoma have a genetic basis. Mutations causing glaucoma have been identified in the chromosome 1 open-angle glaucoma gene (GLC1A), which encodes a 57-kd protein known as myocilin. The normal role of this protein and the mechanism by which mutations cause glaucoma are not known. Methods - We screened 716 patients with primary open-angle glaucoma and 596 control subjects for sequence changes in the GLC1A gene. Results - We identified 16 sequence variations that met the criteria for a probable disease-causing mutation because they altered the predicted amino acid sequence and they were found in one or more patients with glaucoma and in less than 1 percent of the control subjects. These 16 mutations were found in 33 patients (4.6 percent). Six of the mutations were found in more than 1 subject (total, 99). Clinical features associated with these six mutations included an age at diagnosis ranging from 8 to 77 years and maximal recorded intraocular pressures ranging from 12 to 77 mm Hg. Conclusions - A variety of mutations in the GLC1A gene are associated with glaucoma. The spectrum of disease can range from juvenile glaucoma to typical late-onset primary open-angle glaucoma.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:McCartney, PJ (Dr Paul McCartney)
Author:Mackey, DA (Professor David Mackey)
ID Code:13844
Year Published:1998
Web of Science® Times Cited:313
Deposited By:Menzies Centre
Deposited On:1998-08-01
Last Modified:2011-08-08
Downloads:0

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