Genetics of primary open-angle glaucoma

Glaucoma is the leading cause of permanent blindness worldwide. Primary open-angle glaucoma (POAG) is the most common type of glaucoma. POAG is characterized by retinal ganglion cell loss, optic nerve damage, and peripheral to central vision loss. Although the exact cause of POAG is unknown, an increased risk for POAG has been correlated with positive family history, suggesting that it is a complex heritable illness. A variety of genome-wide genetic approaches, including linkage analyses and genome-wide association studies (GWAS), have been used to identify loci contributing to the disease. A number of chromosomal regions and genetic variants have been identified as being linked to or associated with POAG and related endophenotypes. Future functional work will expand upon this knowledge to provide us with a better understanding of the underlying cause of this complex ocular disease.