Molecular genetic aspects of glaucoma pathogenesis

Abstract To improve our understanding of glaucoma pathophysiology it is important to investigate endophenotypes which are determined by heritable quantitative traits, such as intraocular pressure, vertical cup-to-disc ratio, optic disc area, and central corneal thickness. Glaucoma is associated with increased intraocular pressure and defects of trabecular meshwork and anterior chamber which lead to derangement of intraocular fluid outflow, progressive optic nerve degeneration, loss of nerve cells, and blindness. Factors that are not affected by intraocular pressure also contribute to glaucoma degeneration. In progressive degenerative diseases, such as glaucoma, chronic astrocyte activation exacerbates the damage to neurons and impairs the regeneration of their axons. This review considers the polymorphism of predisposition factors to glaucoma-associated endophenotypes, optic nerve degeneration, and side effects of antiglaucomatous drugs.