Three hundred and eighty seven (387) primary open angle patients from a cohort of patients being recruited in Hampshire (UK) were included in this study. Patients were recruited following the tenets of the declaration of Helsinki, informed consent was obtained and the research was approved by the Southampton & South West Hampshire Research Ethics Committee. Patients were all diagnosed as POAG cases and further defined as normal tension glaucoma (NTG) if the average IOP over both eyes ≤21 mmHg, and high tension glaucoma (HTG) if otherwise. All showed visual field loss in at least one eye. A full description of the cohort is given elsewhere [21]. Cases diagnosed as psuedoexfoliation glaucoma and those with a known myocilin mutation were excluded. The replication sample consisted of 294 further POAG cases collected from Southampton, Portsmouth and additional sites on this study in Frimley, Torbay, and Wolverhampton. Myocilin positive cases could not be excluded due to incomplete screening. Descriptions of both the discovery and replication sample are given in Table 1.
