Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

PURPOSE: Coding variants in the optineurin gene (OPTN, GLC1E) have been reported to play a role in primary open-angle glaucoma (POAG) in various populations. This study investigated the role of OPTN sequence variants in patients with POAG in Ghana (West Africa). METHODS: This is a case-control study of unrelated Ghanaian POAG cases and non-glaucomatous controls. Ascertainment criteria for POAG included the presence of glaucomatous optic nerve neuropathy, associated visual field loss, and elevated intraocular pressure (IOP) in both eyes, all in the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields, and IOP. All the coding exons of OPTN were polymerase chain reaction (PCR) amplified and sequenced in all 140 cases and 130 controls using an ABI 3730 DNA analyzer. RESULTS: All the coding exons of OPTN were sequenced in 140 POAG patients and 130 controls. Several coding variants were identified including M98K, A134A, V147L, P292P, A301G, S321S, and E322K. Three coding variants (V147L, P292P, and A301G) have not been reported previously. There were no significant differences on the frequencies of all the identified variants between POAG cases and controls in this population. CONCLUSIONS: This is the first comprehensive study of OPTN in a single West African population. Our results suggest that coding variants in OPTN may not contribute to the risk for POAG in persons of West African descent.

The dawn of genetic testing for glaucoma.

PURPOSE OF REVIEW: To review recent trends in genetic testing in medicine as they apply to newly evolving tests for patients with glaucoma. RECENT FINDINGS: The utilization of powerful molecular methods for genetic testing is now entering its early stages in the practice of medicine in general, and with testing, many issues, both medical and societal, have been raised. Only recently has testing for a disease risk factor in primary open angle glaucoma (POAG) become available. It is known that some mutations in the gene myocilin are associated with POAG. MYOC.mt1 is a relatively common promoter region variant in the myocilin gene for which there is a commercially available test. Some investigators have found that MYOC.mt1 may increase disease severity in patients with POAG, whereas others have not found this association. There is a need for further testing for the role of the MYOC.mt1 variant in the pathogenesis of POAG. SUMMARY: Genetic testing for glaucoma holds great promise. Currently available tests for disease-related tests in patients with glaucoma or at risk for this disease remain controversial.