1. bookVolume 1 (2017): Issue s1 (October 2017)
    EBTNA Utility Gene Test on Ophthalmology
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Zeitschrift
Erstveröffentlichung
30 Jan 2017
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4 Hefte pro Jahr
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Englisch
access type Open Access

Genetic testing in translational ophthalmology

Online veröffentlicht: 27 Oct 2017
Seitenbereich: 1 - 5
Zeitschriftendaten
License
Format
Zeitschrift
Erstveröffentlichung
30 Jan 2017
Erscheinungsweise
4 Hefte pro Jahr
Sprachen
Englisch

Inherited eye diseases are a group of conditions with genetic and phenotypic heterogeneity. Advances in ocular genetic research have provided insights into the genetic basis of many eye diseases. Genetic and technological progress is improving the management and care of patients with inherited eye diseases. Diagnostic laboratories continue to develop strategies with high specificity and sensitivity that reduce the costs and time required for genetic testing. The introduction of next generation sequencing technologies has significantly advanced the identification of new gene candidates and has expanded the scope of genetic testing. Gene therapy offers an important opportunity to target causative genetic mutations. There are clinical trials of treatments involving vector-based eye gene therapies, and a significant number of loci and genes now have a role in the diagnosis and treatment of human eye diseases. Applied genetic technology heralds the development of individualized treatments, ushering ophthalmology into the field of personalized medicine. Many therapeutic strategies have demonstrated efficacy in preclinical studies and have entered the clinical trial phase. In this paper we review the topic of genetic testing in inherited eye diseases. We provide some background information about genetic counseling and genetic testing in ophthalmology and discuss how genetic testing can be helpful to patients and families with inherited eye diseases.

1. Burke W, Atkins D, Gwinn M, et al. Genetic test evaluation: information needs of clinicians, policy makers, and the public. Am J Epidemiol. 2002;156:311-318.Search in Google Scholar

2. Holtzman NA, Watson MS. Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing. J Child Fam Nurs. 1999 Sep-Oct; 2(5):388-90.Search in Google Scholar

3. Khoury MJ, Jones K, Grosse SD. Quantifying the health benefits of genetic tests: the importance of a population perspective. Genet Med 2006;8:191-195.Search in Google Scholar

4. Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, Schmidtke J. EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genet. 2008;11(2):75-120. Search in Google Scholar

5. Newman NJ, Biousse V. Hereditary optic neuropathies. Eye 2004;18:1144-6010.1038/sj.eye.6701591Open DOISearch in Google Scholar

6. Kondo H, Qin M, Tahira T, Uchio E, Hayashi K. Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene. Ophthalmic Genet 2007;28: 220-3.10.1080/13816810701663543Open DOISearch in Google Scholar

7. Robitaille JM, Wallace K, Zheng B, et al. Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. Ophthalmic Genet 2009;30:23-30.10.1080/13816810802464312Open DOISearch in Google Scholar

8. Chung DC, Traboulsi EI. Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions. J AAPOS 2009;13:587-92.Search in Google Scholar

9. Corson TW and Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer 46:617-634Search in Google Scholar

10. Sharif W and Sharif Z. Leber’s congenital amaurosis and the role of gene therapy in congenital retinal disorders Int J Ophthalmol. 2017; 10(3): 480-484.Search in Google Scholar

11. Maclachlan TK, Lukason M, Collins M, Munger R, Isenberger E, Rogers C, Malatos S, Dufresne E, Morris J, Calcedo R, Veres G, Scaria A, Andrews L, Wadsworth S. Preclinical safety evaluation of AAV2-sFLT01- a gene therapy for age-related macular degeneration. Mol Ther. 2011;19(2):326-334.Search in Google Scholar

12. Stone EM, Aldave AJ, Drack AV et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology 2012: 119 (11): 2408-2410.Search in Google Scholar

13. Borry P and Howard HC. Personal genome testing: do you know what you are buying? Am J Bioeth. 2009;9(6-7):11-3.Search in Google Scholar

14. Parke DW The American Academy of Ophthalmology and the Formation of the American Board of Ophthalmology. Ophthalmology. 2016 Sep;123(9 Suppl):S12-4.Search in Google Scholar

15. Morad Y, Sutherland J, DaSilva L, et al. The Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease. Can J Ophthalmol 2007; 42:734-738.10.3129/i07-144Open DOISearch in Google Scholar

16. Gabriel LAR and Traboulsi EI. Genetic Diagnostic Methods for Inherited Eye Diseases. Middle East Afr J Ophthalmol. 2011; 18(1): 24-29.Search in Google Scholar

17. Xuan J, Yu Y, Qing T, Guo L, Shi L. Next-generation sequencing in the clinic: promises and challenges. Cancer Lett 2013; 340: 284-295.Search in Google Scholar

18. Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV. ACMG position statement on prenatal/ preconception expanded carrier screening. Genet Med. 2013; 15(6):482-48310.1038/gim.2013.47Open DOISearch in Google Scholar

19. Consugar MB, Navarro-Gomez D, Place E, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection than exome sequencing. Genet Med. 2015; 17(4): 253-261.Search in Google Scholar

20. Gillespie RL, O’Sullivan J, Ashworth J et al: Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology 2014; 121: 2124-2137 e2121-2122.Search in Google Scholar

21. Sullivan LS, Bowne SJ, Seaman CR, et al. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006;47:4579-4588.Search in Google Scholar

22. Anasagasti A, Irigoyen C, Barandika O, López de Munain A, Ruiz-Ederra J. Current mutation discovery approaches in Retinitis Pigmentosa. Vision Res 2012;75:117-129.Search in Google Scholar

23. Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 2014;312:1880-1887.Search in Google Scholar

24. O’Sullivan J, Mullaney BG, Bhaskar SS et al. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet 2012: 49: 322-326.Search in Google Scholar

25. Harvey A, Brand A, Holgate ST et al. The future of technologies for personalised medicine. N Biotechnol 2012: 29: 625-633.Search in Google Scholar

26. Chair SR, Aziz N, Bale S, Bick D, Das S, Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405-424.Search in Google Scholar

27. Fan BJ, Wiggs JL. Glaucoma: genes, phenotypes, and new directions for therapy. Journal Clinical Investigation. 2010;120:3064-72.Search in Google Scholar

28. Wiggs JL, Howell GR, Linkroum K, Abdrabou W, Hodges E, Braine CE, Pasquale LR, Hannon GJ, Haines JL, John SWM. Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. Clin Genet. 2013; 84(2):167-74.10.1111/cge.12176Open DOISearch in Google Scholar

29. Boye SE, Boye SL, Lewin AS, Hauswirth WW. A comprehensive review of retinal gene therapy. Mol Ther 2013: 21 (3): 509-519.10.1038/mt.2012.280Open DOISearch in Google Scholar

30. Blain D, Goetz KE, Ayyagari R, Tumminiac SJ. eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing. Clin Genet. 2013 Aug; 84(2): 10.1111/cge.12193.Search in Google Scholar

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