106
Views
0
CrossRef citations to date
0
Altmetric
Research Reports

ABCA4 variant screening in a Turkish cohort with Stargardt disease

ORCID Icon, ORCID Icon, , , ORCID Icon & ORCID Icon
Pages 133-139 | Received 09 Mar 2023, Accepted 29 Jan 2024, Published online: 18 Feb 2024

References

  • Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology. 2015;122(2):326–34. doi:10.1016/j.ophtha.2014.08.012.
  • Michaelides M. The genetics of inherited macular dystrophies. J Med Genet. 2003;40(9):641–50. doi:10.1136/jmg.40.9.641.
  • Molday RS. Insights into the molecular properties of ABCA4 and its role in the visual cycle and Stargardt disease. Prog Mol Biol Transl Sci. 2015;134:415–31. doi:10.1016/bs.pmbts.2015.06.008.
  • Burke TR, Tsang SH. Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet. 2011;32(3):165–74. doi:10.3109/13816810.2011.565397.
  • Molday RS, Garces FA, Scortecci JF, Molday LL. Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration. Prog Retin Eye Res. 2022;89:101036. doi:10.1016/j.preteyeres.2021.101036.
  • Quazi F, Molday RS. ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal. Proc Natl Acad Sci USA. 2014;111(13):5024–9. doi:10.1073/pnas.1400780111.
  • Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Mar;15(3):236–46. doi:10.1038/ng0397-236. Erratum in: Nat Genet. 1997 Sep;17(1):122. PMID: 9054934.
  • Strauss RW, Ho A, Muñoz B, Cideciyan AV, Sahel JA, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, et al. The natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) studies: design and baseline characteristics: ProgStar report no. 1. Ophthalmology. 2016;123(4):817–28. doi:10.1016/j.ophtha.2015.12.009.
  • Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FPM, Boon FP, Klevering CJ, Hoyng CB, van Huet RAC. Early-onset stargardt disease: phenotypic and genotypic characteristics. Ophthalmology. 2015;122(2):335–44. doi:10.1016/j.ophtha.2014.08.032.
  • Cremers FPM, Lee W, Collin RWJ, Allikmets R. Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations. Prog Retin Eye Res. 2020;79:100861. doi:10.1016/j.preteyeres.2020.100861.
  • Lee W, Nõupuu K, Oll M, Duncker T, Burke T, Zernant J, Bearelly S, Tsang SH, Sparrow JR, Allikmets R. The external limiting membrane in early-onset Stargardt disease. Invest Ophthalmol Vis Sci. 2014;55(10):6139–49. doi:10.1167/iovs.14-15126.
  • Burke TR, Yzer S, Zernant J, Smith RT, Tsang SH, Allikmets R. Abnormality in the external limiting membrane in early Stargardt disease. Ophthalmic Genet. 2013;34(1–2):75–7. doi:10.3109/13816810.2012.707271.
  • Fujinami K, Strauss RW, Chiang J, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, et al. Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. Br J Ophthalmol. 2019;103(3):390. doi:10.1136/bjophthalmol-2018-312064.
  • Al‐Khuzaei S, Broadgate S, Foster CR, Shah M, Yu J, Downes SM, Halford S. An overview of the genetics of abca4 retinopathies, an evolving story. Genes. 2021;12(8) 10.3390/genes12081241.
  • Hu FY, Li JK, Gao FJ, Qi YH, Xu P, Zhang YJ, Wang DD, Wang LS, Li W, Wang M, et al. ABCA4 gene screening in a Chinese cohort with Stargardt disease: identification of 37 novel variants. Front Genet. 2019;10(JUL):773. doi:10.3389/fgene.2019.00773.
  • Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, et al. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53(8):4458–67. doi:10.1167/iovs.11-9166.
  • Cella W, Greenstein VC, Zernant-Rajang J, Smith TR, Barile G, Allikmets R, Tsang SH. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull’s eye maculopathy. Exp Eye Res. 2009;89(1):16. doi:10.1016/j.exer.2009.02.001.
  • Dockery A, Whelan L, Humphries P, Farrar G. Next-generation sequencing applications for inherited retinal diseases. Int J Mol Sci. 2021;22(11):5684. doi:10.3390/ijms22115684.
  • Galvin O, Chi G, Brady L, Hippert C, Rubido M, Daly A, Michaelides M. The impact of inherited retinal diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a cost-of-illness perspective. Clin Ophthalmol. 2020;14:707–19. doi:10.2147/OPTH.S241928.
  • Ibanez M, Guimaraes T, Capasso J, Bello N, Levin A. Stargardt misdiagnosis: how ocular genetics helps. Am J Med Genet A. 2020;185(3):814–9. doi:10.1002/ajmg.a.62045.
  • Qi Y, Gao F, Hu F, Zhang S, Chen J, Huang W, Tian G, Wang M, Gan D-K, Wu J-H. Next-generation sequencing-aided rapid molecular diagnosis of occult macular dystrophy in a Chinese family. Front Genet. 2017;8. doi:10.3389/fgene.2017.00107.
  • Birtel J, Gliem M, Hess K, Birtel T, Holz F, Zechner U, Bolz HJ, Herrmann P. Comprehensive geno- and phenotyping in a complex pedigree including four different inherited retinal dystrophies. Genes. 2020;11(2):137. doi:10.3390/genes11020137.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.