Tank-Binding Kinase 1 () Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).

Purpose: To investigate the role of TANK-binding kinase 1 () gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas.

Methods: In previous studies, we discovered that copy-number variations in the gene are associated with normal-tension glaucoma. Here, we investigated the prevalence of copy-number variations in cohorts of patients with other open-angle glaucomas-juvenile-onset open-angle glaucoma (n=30), pigmentary glaucoma (n=209), exfoliation glaucoma (n=225), and steroid-induced glaucoma (n=79)-using a quantitative polymerase chain reaction assay.

Results: No gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients.

Conclusions: gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected a copy-number variation in a patient with exfoliation glaucoma, which is the first example of a mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma.