Glaucoma is one of the leading causes of blindness throughout the world1'2 with a prevalence of over 2% in individuals over the age of 40 years.3 It is a heterogeneous disorder characterized by a progressive degeneration of axons manifesting as optic nerve head cupping and field loss. Most glaucomas are asymptomatic until late in the disease course and therefore many patients are diagnosed on routine examinations or only after advanced field loss has occurred. The molecular etiology of glaucoma is largely unknown but there are numerous studies demonstrating a genetic etiology for this disorder. Specific gene mutations have been identified for the common adult forms of glaucoma such as primary open angle glaucoma (POAG), normal-pressure glaucoma, and pseudoexfoliation glaucoma (XFG). Understanding the molecular basis of glaucoma would be helpful in both the diagnosis and management of this disorder. For example, genetic testing could be used to identify individuals who are at high risk for the development or progression of glaucoma. Furthermore, identifying and understanding novel pathways could be used to design more specific and effective therapies. This article will review the genes associated with common forms of adult glaucoma. Juvenile open angle glaucoma (JOAG) will also be discussed because of its genetic similarity to POAG.
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