Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration
- PMID: 27010695
- DOI: 10.1167/iovs.15-18167
Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration
Abstract
The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples are discussed here. The first is Leber congenital amaurosis (LCA), a severe inherited retinal dystrophy leading to severe vision loss in children, and the second is age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. Twenty years ago, the genetic causes of these diseases were unknown. Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases. Gene-specific treatments have entered the clinical trial phase for three LCA genes, and for seven LCA genes gene-specific therapies have been tested in model systems. Age-related macular degeneration is a multifactorial disease caused by a combination of genetic and environmental factors. Currently, more than 40 loci have been identified for AMD, accounting for 15%-65% of the total genetic contribution to AMD. Despite the progress that has been made so far, genetic testing is not yet recommended for AMD, but this may change if we move to clinical trials or treatments that are dependent on an individual's genotype. The identification of serum or plasma biomarkers using other "-omics" technologies may further improve predictive tests and our understanding of the disease mechanisms of AMD. Ultimately, it is anticipated that predictive tests will help to stratify patients for the most suitable therapy, which will enable the development of precision medicine, tailored to individual needs.
Similar articles
-
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.Exp Eye Res. 2019 Dec;189:107834. doi: 10.1016/j.exer.2019.107834. Epub 2019 Oct 19. Exp Eye Res. 2019. PMID: 31639339 Review.
-
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.Br J Ophthalmol. 2017 Sep;101(9):1147-1154. doi: 10.1136/bjophthalmol-2016-309975. Epub 2017 Jul 8. Br J Ophthalmol. 2017. PMID: 28689169 Free PMC article. Review.
-
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.J Zhejiang Univ Sci B. 2017 May;18(5):421-429. doi: 10.1631/jzus.B1600156. J Zhejiang Univ Sci B. 2017. PMID: 28471114 Free PMC article.
-
Available Evidence on Leber Congenital Amaurosis and Gene Therapy.Semin Ophthalmol. 2017;32(1):14-21. doi: 10.1080/08820538.2016.1228383. Epub 2016 Sep 29. Semin Ophthalmol. 2017. PMID: 27686653 Review.
-
IQCB1 mutations in patients with leber congenital amaurosis.Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. Invest Ophthalmol Vis Sci. 2011. PMID: 20881296
Cited by
-
Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.Front Med (Lausanne). 2022 Jul 15;9:906482. doi: 10.3389/fmed.2022.906482. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35911417 Free PMC article. Review.
-
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.Retina. 2021 May 1;41(5):898-907. doi: 10.1097/IAE.0000000000003133. Retina. 2021. PMID: 33595255 Free PMC article. Review.
-
Clinical Role of Epigenetics and Network Analysis in Eye Diseases: A Translational Science Review.J Ophthalmol. 2019 Dec 23;2019:2424956. doi: 10.1155/2019/2424956. eCollection 2019. J Ophthalmol. 2019. PMID: 31976085 Free PMC article. Review.
-
Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision.Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1680-1695. doi: 10.1167/iovs.19-26672. Invest Ophthalmol Vis Sci. 2019. PMID: 31009524 Free PMC article. Review. No abstract available.
-
Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.Int J Ophthalmol. 2018 Jan 18;11(1):117-134. doi: 10.18240/ijo.2018.01.20. eCollection 2018. Int J Ophthalmol. 2018. PMID: 29376001 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials