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

journal contribution
posted on 2023-05-16, 11:11 authored by Alward, WLM, Fingert, JH, Coote, MA, Johnson, T, Lerner, SF, Junqua, D, Durcan, FJ, McCartney, PJ, David MackeyDavid Mackey, Stone, EM, Sheffield, VC
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.

History

Publication title

The New England Journal of Medicine

Volume

338

Issue

15

Pagination

1022-1027

ISSN

0028-4793

Department/School

Menzies Institute for Medical Research

Publisher

Massachusetts Medical Soc/Nejm

Place of publication

Waltham Woods Center, 860 Winter St,, Waltham, USA, Ma, 02451-1413

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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