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Glaucoma is a group of diseases resulting in an irreversible degeneration of the optic nerve. It is one of the leading causes of blindness worldwide, estimated to affect more than 60 million people by 2010. Pseudoexfoliation syndrome (PXFS) results in the deposition of microfibrillar material throughout the eye, with over 50% of cases developing glaucoma. Primary open-angle glaucoma (POAG) and pseudoexfoliation glaucoma (PXFG) are the most common forms of glaucoma. Genetic factors play an important role in the development of these disorders. Fourteen chromosomal loci have been designated GLC1A to GLC1N for POAG. From these loci, three genes have been identified as causative factors for POAG. Mutations in the MYOC gene at GLC1A primarily cause high-tension glaucoma (HTG). The OPTN gene at GLC1E appears to contribute to normal-tension glaucoma (NTG). The WDR36 gene at GLC1G is considered to be a modifier gene affecting both HTG and NTG patients. However, mutations in these genes together only account for fewer than 10% of all POAG cases. Collectively, these results underscore the genetic complexity of POAG and the need for the identification of genes that confer significant susceptibility.

DNA Sequence Variants in LOXL1 and Pseudoexfoliation Glaucoma