Research on optineurin(E50K)mutation and normal tension glaucoma
10.3760/cma.j.issn.1673-4904.2018.04.023
- VernacularTitle:视神经病变诱导基因(E50K)突变与正常眼压性青光眼发病机制的研究
- Author:
Xinna LIU
1
;
Huiping YUAN
Author Information
1. 150000,哈尔滨医科大学附属第二医院眼科
- Keywords:
Normal tension glaucoma;
Optineurin;
E50K;
Pathogenic mechanism;
Review
- From:
Chinese Journal of Postgraduates of Medicine
2018;41(4):374-377
- CountryChina
- Language:Chinese
-
Abstract:
Glaucoma is one of the leading causes of irreversible blindness.The progressive retinal ganglion cell death is the character of glaucoma which is often associated with elevated intraocular pressure. With the investigations on normal tension glaucoma (NTG), we find that the high intraocular pressure is not the only relevant factor. Research on NTG family has associated mutations in the optineurin(OPTN)gene with this disease, especially the E50K mutated OPTN.The molecular structures, localization, mutation, cellular function and pathogenic mechanism of OPTN has been gradually recognized.
