INTRODUCTION Glaucoma is a chronic progressive neurodegenerative disease and exhibits heterogeneity, polygenic inheritance, and incomplete penetrance. Primary open-angle glaucoma (POAG) is the most common form of gl...INTRODUCTION Glaucoma is a chronic progressive neurodegenerative disease and exhibits heterogeneity, polygenic inheritance, and incomplete penetrance. Primary open-angle glaucoma (POAG) is the most common form of glaucoma. Although the underlying etiology of POAG is unknown, there is evidence that genetic mutations are closely associated with this disease, Among myocilin (MYOC) mutations, Pro370Leu (P370L) is responsible for one of the most severe glaucoma phenotypes, However, the function of MYOC protein is still not well understood.展开更多
基金The work was supported by a grant from Project of Science Foundation of Mudanjiang (No. G2012s0028).
文摘INTRODUCTION Glaucoma is a chronic progressive neurodegenerative disease and exhibits heterogeneity, polygenic inheritance, and incomplete penetrance. Primary open-angle glaucoma (POAG) is the most common form of glaucoma. Although the underlying etiology of POAG is unknown, there is evidence that genetic mutations are closely associated with this disease, Among myocilin (MYOC) mutations, Pro370Leu (P370L) is responsible for one of the most severe glaucoma phenotypes, However, the function of MYOC protein is still not well understood.