Research on optineurin(E50K)mutation and normal tension glaucoma / 中国医师进修杂志

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.