Objective: To determine the prevalence and associated phenotype of myocilin (MYOC) coding sequence variations and a specific promoter polymorphism (MYOC.mtl) in patients with glaucoma and glaucoma suspects. Methods: A consecutive, unselected series of 779 patients (652 with open-angle glaucoma and 127 glaucoma suspects) were recruited from a university medical center and clinically characterized. The coding sequences of the MYOC gene and the MYOC.mtl locus in the promoter region were screened for sequence variations. We determined the prevalence of MYOC coding sequence mutations and the MYOC.mtl promoter polymorphism. We also compared the clinical features of individuals with and without mutations and the MYOC.mtl promoter polymorphism. Results: Plausible disease-causing sequence variations (DCVs) in the MYOC gene were found in 3.0% of the entire group. Such variations were found in patients with most forms of open-angle glaucoma studied. Patients with primary open-angle glaucoma (POAG) who harbored coding sequence DCVs were clinically similar to patients without them. Patients who harbored the rarer allele of the MYOC.mtl promoter polymorphism were no different in any measure of disease severity from those who harbored the more common allele. Conclusions: MYOC DCVs were found in approximately 3% of patients with glaucoma and glaucoma suspects. The 2 alleles of the MYOC.mtl promoter polymorphism were equally distributed among patients with POAG and healthy control subjects. Patients with POAG who harbored the rarer allele of the MYOC.mtl promoter polymorphism were no different from those with the more common variant in any measure of disease severity. Clinical Relevance: Testing for the MYOC.mtl promoter polymorphism appears to be of no value in the evaluation of patients with glaucoma.
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