Abstract
Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG) occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN) and TANK binding kinase 1 (TBK1), cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase that phosphorylates OPTN, an autophagy receptor, which ultimately activates autophagy. The sequestosome (SQSTM1) gene also encodes an autophagy receptor and also is a target of TBK1 phosphorylation. Consequently, we hypothesized that mutations in SQSTM1 may also cause NTG. We tested this hypothesis by searching for glaucoma-causing mutations in a cohort of NTG patients (n = 308) and matched controls (n = 157) using Sanger sequencing. An additional 1098 population control samples were also analyzed using whole exome sequencing. A total of 17 non-synonymous mutations were detected which were not significantly skewed between cases and controls when analyzed separately, or as a group (p > 0.05). These data suggest that SQSTM1 mutations are not a common cause of NTG.
Highlights
Glaucoma is an important public health problem that is the common cause of irreversible blindness worldwide [1]
Glaucoma is a disease of the optic nerve, which carries visual signals from the retina in the eye to the brain
The most common type of glaucoma in many nations is primary open angle glaucoma (POAG), which occurs in the absence of any other ocular abnormalities including anatomical defects that might obstruct fluid egress from the eye
Summary
Glaucoma is an important public health problem that is the common cause of irreversible blindness worldwide [1]. Glaucoma is a disease of the optic nerve, which carries visual signals from the retina in the eye to the brain. The key features of glaucoma are damage to the optic nerve, which is visible on ophthalmic exam, and a characteristic pattern of visual field loss. The most common type of glaucoma in many nations is primary open angle glaucoma (POAG), which occurs in the absence of any other ocular abnormalities including anatomical defects that might obstruct fluid egress from the eye. High intraocular pressure (IOP) is a potent risk factor for glaucoma [2]. The higher the IOP, the greater the risk for developing glaucoma, glaucoma can occur at any IOP [3]. When glaucoma occurs below an arbitrary threshold pressure, 21 mm Hg, it is frequently termed normal tension glaucoma (NTG)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
