• W L Alward, J H Fingert, M A Coote, A T Johnson, S F Lerner, D Junqua, F J Durcan, P J McCartney, D A Mackey, V C Sheffield, and E M Stone.
• Department of Ophthalmology, University of Iowa, Iowa City 52242, USA.
• N. Engl. J. Med. 1998 Apr 9; 338 (15): 1022-7.

BackgroundA 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.MethodsWe screened 716 patients with primary open-angle glaucoma and 596 control subjects for sequence changes in the GLC1A gene.ResultsWe 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, 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.ConclusionsA 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.

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