Genetics of Glaucoma


Glaucoma is the major cause of blindness worldwide. Primary open‐angle glaucoma (POAG) and angle closure glaucoma (ACG) are the most prevalent forms of glaucoma and are the most common causes of glaucoma‐related blindness worldwide. It has become increasingly clear that a host of genetic and environmental factors contribute to the glaucoma phenotype. The genetic discussion covered in this review includes POAG, pigment dispersion glaucoma (PDG), exfoliation glaucoma (XFG), childhood glaucomas and angle closure glaucoma. Numerous chromosomal loci and genetic associations have been reported for different types of glaucoma. This article examines the current status of investigations into the genetic architecture of the glaucomas and how this evolving understanding may contribute to the clinical management of patients with this disease.

Key Concepts:

  • Glaucoma is characterised by the progressive loss of retinal ganglion cells that is associated with a characteristic optic neuropathy and visual field loss.

  • POAG (primary open‐angle glaucoma) is the most common type of glaucoma and is characterised by the presence of glaucomatous optic neuropathy without an identifiable secondary cause.

  • XFG (exfoliation glaucoma) is the most common identifiable form of open‐angle glaucoma.

  • PCG (primary congenital glaucoma) is the most common childhood glaucoma with a developmental abnormality of the anterior chamber angle.

  • Genetic linkage analysis has been widely used to search for genes that account for Mendelian diseases inherited as either autosomal dominant or recessive traits.

  • Genetic admixture mapping is widely used to localise disease‐associated genetic variants that differ in prevalence across populations.

  • Genome‐wide association study (GWAS) is a powerful method used to identify common genetic variants that are associated with the specific diseases or trait.

  • Genetic association analysis has been widely used to determine whether a genetic variant is associated with a disease or trait.

Keywords: glaucoma; POAG; XFG; PCG; genetics; LOXL1; myocilin; optineurin; NTF4; CYP1B1

Figure 1.

Congenital glaucoma demonstrating typical buphthalmos (Courtesy David Wallace, MD, Duke Eye Center).

Figure 2.

Axenfeld–Rieger syndrome with iris anomalies (Courtesy David Wallace, MD, Duke Eye Center).

Figure 3.

Peter's anomalies with central corneal clouding (Courtesy David Wallace, MD, Duke Eye Center).



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How to Cite close
Liu, Yutao, and Allingham, R Rand(Dec 2010) Genetics of Glaucoma. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0021429]