Genetic etiologies of glaucoma

Arch Ophthalmol. 2007 Jan;125(1):30-7. doi: 10.1001/archopht.125.1.30.


Glaucoma can be inherited as a mendelian autosomal-dominant or autosomal-recessive trait, or as a complex multifactorial trait. Genetic approaches have helped define the underlying molecular events responsible for some mendelian forms of the disease and have identified the chromosome locations of genes that are likely to contribute to common complex forms. Future directions include the discovery of new glaucoma genes, determining the clinical phenotypes associated with specific genes and mutations, investigating environmental factors that may contribute to the disease, investigating gene-environment interactions and gene-gene interactions, and developing a mutation database that can be used for diagnostic and prognostic testing.

Publication types

  • Review

MeSH terms

  • Genes, Dominant
  • Genes, Recessive
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Optic Nerve Diseases / genetics