Advances in the genomics of common eye diseases

Hum Mol Genet. 2013 Oct 15;22(R1):R59-65. doi: 10.1093/hmg/ddt396. Epub 2013 Aug 19.

Abstract

Genome-wide association studies (GWAS) and other genomic technologies have accelerated the discovery of genes and genomic regions contributing to common human ocular disorders with complex inheritance. Age-related macular degeneration (AMD), diabetic retinopathy (DR), glaucoma and myopia account for the majority of visual impairment worldwide. Over 19 genes and/or genomic regions have been associated with AMD. Current investigations are assessing the clinical utility of risk score panels and therapies targeting disease-specific pathways. DR is the leading cause of blindness in the United States and globally is a major cause of vision loss. Genomic investigations have identified molecular pathways associated with DR in animal models which could suggest novel therapeutic targets. Three types of glaucoma, primary-open-angle glaucoma (POAG), angle-closure glaucoma and exfoliation syndrome (XFS) glaucoma, are common age-related conditions. Five genomic regions have been associated with POAG, three with angle-closure glaucoma and one with XFS. Myopia causes substantial ocular morbidity throughout the world. Recent large GWAS have identified >20 associated loci for this condition. In this report, we present a comprehensive overview of the genes and genomic regions contributing to disease susceptibility for these common blinding ocular disorders and discuss the next steps toward translation to effective gene-based screening tests and novel therapies targeting the molecular events contributing to disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Diabetic Retinopathy / genetics*
  • Diabetic Retinopathy / therapy
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genome-Wide Association Study
  • Glaucoma / genetics*
  • Glaucoma / therapy
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / therapy
  • Myopia / genetics*
  • Myopia / therapy
  • Risk Factors
  • Signal Transduction / genetics
  • United States