Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients.
Jing Na HeShiyao LuGuy L J ChenPancy Oi Sin TamBi Ning ZhangChristopher Kai Shun LeungChi Pui PangClement Chee Yung ThamWai-Kit ChuPublished in: Disease markers (2019)
This study confirmed the association of the OPTN T34T variant with NTG, suggesting that OPTN is a susceptibility gene for NTG in Chinese. Moreover, a variant with amino acid change (I407T) was identified in NTG but not in controls. Further studies are warranted to assess whether this variant is a causative mutation for NTG.