Advances in the genomics of common eye diseases

Jessica N.Cooke Bailey, Lucia Sobrin, Margaret A. Pericak-Vance, Jonathan L. Haines, Christopher J. Hammond, Janey L. Wiggs

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


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. Agerelated macular degeneration (AMD), diabetic retinopathy (DR), glaucoma and myopia account for the majority of visual impairmentworldwide. Over 19 genes and/or genomic regions have been associated withAMD.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 ocularmorbidity throughout the world. Recent largeGWAShave 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.

Original languageEnglish (US)
Article numberddt396
Pages (from-to)R59-R65
JournalHuman molecular genetics
Issue numberR1
StatePublished - Oct 2013

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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