Genetics and genetic testing for glaucoma

Curr Opin Ophthalmol. 2017 Mar;28(2):133-138. doi: 10.1097/ICU.0000000000000344.


Purpose of review: In recent decades, investigators have identified numerous genes and genetic factors that cause or contribute risk for glaucoma. These findings have increased our understanding of disease mechanisms, provided us with new diagnostic tools, and may allow for development of improved therapies for glaucoma. However, genetic testing is most useful when it is reserved for appropriate patients. The purpose of this article is to review key points and recent developments regarding the genetics and genetic testing for glaucoma and to provide recommendations for when genetic testing may be warranted.

Recent findings: Large genome-wide association studies have identified multiple new susceptibility loci associated with primary open angle glaucoma and primary angle closure glaucoma.

Summary: Several glaucoma-causing genes and genetic risk factors for glaucoma have been discovered. As a result, there are specific clinical scenarios in which genetic testing is warranted. In select cases (i.e., familial juvenile open angle glaucoma), genetic testing can serve as a powerful tool to improve diagnostic accuracy, efficiency of disease surveillance, and selection of treatment, enabling physicians to better optimize care for their patients.

Publication types

  • Review

MeSH terms

  • Genetic Carrier Screening
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Genome-Wide Association Study
  • Glaucoma, Open-Angle / diagnosis*
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Molecular Biology