Prevalence of Myocilin and Optineurin Sequence Variants in German Normal Tension Glaucoma Patients

Abstract

Abstract: : Purpose: To determine the prevalence of optineurin (OPTN) and myocilin (MYOC) sequence variants in a cohort of unrelated German patients with normal tension glaucoma (NTG). Methods: The patient sample comprised a cohort of 112 unrelated German patients that included 67 women and 45 men, with ages ranging from 14 to 84 years. Patients with NTG had a mean IOP without treatment that was consistently 21 mm Hg or less on diurnal testing. All coding exons of the OPTN and MYOC genes were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. To assess frequencies of specific variants in controls (100 unselected German controls), we applied denaturing high performance liquid chromatography (DHPLC) and restriction fragment length polymorphism (RFLP) analysis. Results: Sequence variants were identified by DNA sequencing in 10 of 112 cases. The OPTN sequence variant M98K was found in seven patients. In addition, two novel sequence variants (A336G and A377T) in the OPTN gene were identified, that were not present in the control group. Mutation screening also identified two MYOC mutations (T293K and A445V). Conclusions: The findings in the current study indicate that OPTN sequence variants are a relatively infrequent cause of NTG in Germans.

Keywords: clinical (human) or epidemiologic studies: prevalence/incidence • genetics • mutations