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Previous Volume 338:1022-1027 April 9, 1998 Number 15 Next

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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.

Source Information

From the Departments of Ophthalmology (W.L.M.A., J.H.F., A.T.J., E.M.S.) and Pediatrics (V.C.S.) and the Howard Hughes Medical Institute (V.C.S.), University of Iowa, Iowa City; the Department of Ophthalmology, University of Melbourne, Melbourne, Australia (M.A.C., D.A.M.); Santa Lucia Ophthalmologic Hospital and Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina (S.F.L., D.J.); the Department of Ophthalmology, University of Utah College of Medicine, Salt Lake City (F.J.D.); and the Department of Ophthalmology, University of Tasmania (P.J.M., D.A.M.), and the Menzies Centre for Population Research (D.A.M.) — both in Hobart, Tasmania, Australia.

Address reprint requests to Dr. Stone at the Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242.

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