title: Advances in the genomics of common eye diseases.
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.
authors: Jessica N
authors: JN
authors: Cooke Bailey
authors: Lucia
authors: L
authors: Sobrin
authors: Margaret A
authors: MA
authors: Pericak-Vance
authors: Jonathan L
authors: JL
authors: Haines
authors: Christopher J
authors: CJ
authors: Hammond
authors: Janey L
authors: JL
authors: Wiggs
mesh_terms: D000818:Animals; D003930:Diabetic Retinopathy / Q000235:genetics* / Q000628:therapy; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D005901:Glaucoma / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000628:therapy; D009216:Myopia / Q000235:genetics* / Q000628:therapy; D012307:Risk Factors; D015398:Signal Transduction / Q000235:genetics; D014481:United States
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