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Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis)
John H Fingert1, Alan L Robin1, Todd E Scheetz1
1Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
Purpose:
To investigate the role of TANK-binding kinase 1 (TBK1) 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 TBK1 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 TBK1 gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A TBK1 gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients.
Conclusions:
TBK1 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 TBK1 copy-number variation in a patient with exfoliation glaucoma, which is the first example of a TBK1 mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with TBK1 copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma.
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