American Journal of Ophthalmology
Volume 149, Issue 4 , Pages 651-655.e2 , April 2010

Preimplantation Genetic Diagnosis for Stargardt Disease

  • Mahsa A. Sohrab

      Affiliations

    • Department of Ophthalmology, Columbia University, New York, New York
    • Corresponding Author InformationInquiries to Mahsa A. Sohrab, BA, Columbia University, Edward S. Harkness Eye Institute, 160 Ft. Washington Ave, Rm. 412, New York, NY 10032
    • ,
  • Rando Allikmets

      Affiliations

    • Department of Ophthalmology, Columbia University, New York, New York
    • ,
  • Michael M. Guarnaccia

      Affiliations

    • Center for Women's Reproductive Care, Columbia University, New York, New York
    • ,
  • R. Theodore Smith

      Affiliations

    • Department of Ophthalmology, Columbia University, New York, New York

References 

  1. Anderson KL, Baird L, Lewis RA, et al. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet. 1995;57:1351–1363
  2. Westerfeld C, Mukai S. Stargardt's disease and the ABCR gene. Semin Ophthalmol. 2008;23:59–65
  3. Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236–246
  4. Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805–1807
  5. Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355–362
  6. Jaakson K, Zernant J, Kulm M, et al. Genotyping microarray (Gene Chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003;22:395–403
  7. Allikmet R. Stargardt disease: From gene discovery to therapy. In:  Tombran-Tink J,  Barnstable CJ editor. Retinal Degenerations: Biology, Diagnostics, and Therapeutics. Totowa, NJ: Humana Press, Inc; 2007;p. 105–114
  8. Sermon K, Steirteghem AV, Liebaers I. Preimplantation genetic diagnosis. Lancet. 2004;363:1633–1641
  9. Xu K, Rosenwaks Z, Beaverson K, et al. Preimplantation genetic diagnosis for retinoblastoma: The first reported liveborn. Am J Ophthalmol. 2004;137:18–23
  10. Morales R, Lledo B, Ortiz JA, et al. Preimplantation genetic diagnosis of X-linked retinoschisis using multiple displacement amplification (MDA). Reprod Biomed Online. 2008;16:886–892
  11. Rivera A, White K, Stöhr H, et al. A comprehensive survey of sequence variation in the ABCA4 (ACBR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet. 2000;67:800–813
  12. Simonelli F, Testa F, Crecchio G, et al. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2000;41:892–897
  13. Fumagalli A, Ferrari M, Soriani N, et al. Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. Hum Genet. 2001;109:326–338
  14. Harper J, Sermon K, Geraedts J, et al. What next for preimplantation genetic screening?. Hum Reprod. 2008;478–480
  15. Goossens V, Harton G, Moutou C, et al. ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod. 2009;1–25
  16. Cideciyan AV, Swider M, Aleman TS, et al. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009;931–941
  17. Baruch S, Kaufman D, Hudson K. Genetic testing of embryos: practices and perspectives of US in vitro fertilization clinics. Fertil Steril. 2008;89:1053–1058
  18. Omurtag KR, Toth TL. The cost effectiveness and health outcomes of in vitro fertilization (IVF) as a mandated benefit. Fertil Steril. 2007;88:S122
  19. Adamson GD, de Mouzon J, Lancaster P, et al. World Collaborative Report on In Vitro Fertilization, 2000. Fertil Steril. 2006;85:1586–1622

PII: S0002-9394(09)00893-9

doi: 10.1016/j.ajo.2009.11.029

American Journal of Ophthalmology
Volume 149, Issue 4 , Pages 651-655.e2 , April 2010

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