Table 2. Previously known and novel mutations detected in the CYP1B1, MYOC, and OPTN genes in primary open-angle glaucoma patients

Shown are details of 30 primary open-angle glaucoma (POAG) patients with previously known and novel mutations in the CYP1B1, MYOC, and OPTN genes. Since the Glu229Lys and Arg368His mutations were found in normal controls with frequencies of 5% and 2%, respectively, these mutations might be polymorphic variants in our population. By excluding these mutations, the frequency of patients with mutations in three glaucoma-causing genes is 3.59% (9/251). In the table, * indicates a novel mutation; + identifies wild-type alleles; # indicates a family history of glaucoma; other cases are sporadic. The following abbreviations were used: normal tension glaucoma (NTG), right eye (RE), left eye (LE), both eyes (BE), perception of light negative (PL-ve), and cup to disc (CD). The age of onset and diagnosis are in years.