Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: The Blue Mountains Eye Study

Abstract

Background: The optineurin (OPTN) gene has been reported to possess both causal as well as risk-associated alleles for open-angle glaucoma. However, these findings have so far only been reported in family and clinic based studies. The aim of this study was to investigate the spectrum of mutations and gene variants in OPTN that might be present in people with glaucoma from a population-based study, the Blue Mountains Eye Study (BMES). Methods: A total of 108 subjects of Caucasian origin were identified at baseline in the BMES as having open-angle glaucoma. Blood samples were available from 27 of these, of whom 18 had high-tension glaucoma and the remaining nine had normal-tension glaucoma. Ni..