Clinical features associated with mutations in the chromosome 1 open- angle glaucoma gene (GLC1A)

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 th..