Advances in Genetics and Pathogenesis in Primary Open Angle Glaucoma

Abstract

Glaucoma is a type of optic neuropathy. It is the main cause of irreversible blindness in the world. Its pathogenesis is unclear at this time. In recent years, with the development of a genome-wide association study (GWAS), family studies and functional studies, great progress has been made in the understanding of the molecular basis and complexity of glaucoma. Primary open angle glaucoma (POAG) accounts for about 70% of glaucomatous cases worldwide and the prevalence rate has been increasing. POAG has obvious genetic characteristics, but since it is a complex genetic pattern, only about 10% of the cases represent a typical Mendelian single gene inheritance, and the others may be the interaction of multiple genetic factors, or the result of the common effects of genetic and environmental factors. At present, more than 30 genes directly related to glaucoma have been identified. The encoding proteins are involved in a wide range of cell processes and biological systems, including the extracellular matrix, cytokine signal transduction, lipid metabolism membrane biology, cell differentiation, autophagy and eye development. This report intends to further the understanding of the internal relationship between glaucoma and genes and clarify its possible pathogenesis from several important biological processes such as endoplasmic reticulum stress response, tumor necrosis factor-alpha signal pathway, autophagy regulation, TGF-beta signal pathway and others. Key words: primary open angle glaucoma; genes; pathogenesis; signal pathway