Journals / Retina-Vitreus / 2022 / Cilt: 31 - Sayı: 3

Genetic Testing Strategies in Inherited Retinal Diseases: Practical Aspects for Ophthalmologists

Pages
193–197
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This review provides the basic aspects of genetic testing strategies for ophthalmologists.

📌 3 Key Takeaways

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Objective & Hypothesis:Rapidly developing genetic testing methods has transformed the diagnostic process for inherited retinal diseases (IRDs).
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Key Findings & Data:Besides, management options for IRDs are increasing including gene and stem cell therapies.
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Conclusion & Impact:This review provides the basic aspects of genetic testing strategies for ophthalmologists.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Rapidly developing genetic testing methods has transformed the diagnostic process for inherited retinal diseases (IRDs). Besides, management options for IRDs are increasing including gene and stem cell therapies. In contrast to these rapidly evolving options for diagnosis or management, number of ophthalmologists specialized in genetic diseases or number of geneticists specialized in ophthalmological diseases are limited. Therefore, ophthalmologists should have a better understanding of genetic testing algorithms for proper management of patients with IRDs. This review provides the basic aspects of genetic testing strategies for ophthalmologists.

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Cite This Article

TUNCAY, F. Y. (2022). Genetic Testing Strategies in Inherited Retinal Diseases: Practical Aspects for Ophthalmologists. Retina-Vitreus, Cilt: 31 - Sayı: 3, 193–197. https://ajindex.com/articles/589001

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References (13)

  1. Hanany M, Rivolta C, Sharon D. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proc Natl Acad Sci. 2020;117:2710–6
  2. Daiger SP, Sullivan LS, Bowne SJ. RetNet Retinal information Network. The University of Texas-Houston Health Science Center. (https://sph.uth.edu/retnet/, access date: 15th of August 2022
  3. Black GC, Sergouniotis P, Sodi A, et al. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement. Orphanet J Rare Dis. 2021;16:142
  4. 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 Nov;119:2408-10
  5. Garafalo AV, Cideciyan AV, Heon E, et al. Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives. Prog Retin Eye Res. 2020;77:100827
  6. MacLaren RE and Cehajic-Kapetanovic J. Gene therapy and treatment trials. Clinical Ophthalmic Genetics and Genomics. 2022 Elsevier Inc. https://doi.org/10.1016/B978-0-12-813944- 8.00008-1 7. Van Cauwenbergh C, Van Schil K, Bauwens M, et al. Genetic testing techniques. Clinical Ophthalmic Genetics and Genomics. 2022 Elsevier Inc. Clinical Ophthalmic Genetics and Genomics. 2022 Elsevier Inc. https://doi.org/10.1016/B978-0-12-813944- 8.00002-0
  7. Stone, E. M., Lotery, A. J., Munier, F. L., et al. A single EFEMP1 mutation associated with both malattia leventinese and Doyne honeycomb retinal dystrophy. Nature Genet. 1999;22: 199-202
  8. Hayward, C., Shu, X., Cideciyan, A. V., et al. Mutation in a short- chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Hum. Molec. Genet. 2003;12: 2657-67
  9. Anand-Apte B, Chao JR, Singh R, et al. Sorsby fundus dystrophy: Insights from the past and looking to the future. J Neurosci Res. 2019;97:88-97
  10. Tsang SH, Sharma T. X-linked Choroideremia. Adv Exp Med Biol. 2018;1085:37-42
  11. Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012;31:195-212
  12. Guimaraes TAC, Georgiou M, Robson AG, et al. KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy. Ophthalmic Genet. 2020;41:208-15
  13. Sheck LHN, Esposti SD, Mahroo OA