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Journal of Ophthalmology
Volume 2018, Article ID 1030184, 7 pages
https://doi.org/10.1155/2018/1030184
Research Article

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

1Hedi Rais Institute of Ophthalmology (Department B), Tunis, Tunisia
2Oculogenetic Laboratory LR14SP01, Tunis, Tunisia
3Institute for Research in Ophthalmology (IRO), Sion, Switzerland
4Department of Ophthalmology, University of Lausanne and Faculty of Life Sciences, Ecole Polytechnique Fédérale of Lausanne, Lausanne, Switzerland

Correspondence should be addressed to Yousra Falfoul; rf.oohay@luoflaf.arsoy

Received 9 September 2017; Revised 29 December 2017; Accepted 1 February 2018; Published 15 March 2018

Academic Editor: Robert B. Hufnagel

Copyright © 2018 Yousra Falfoul et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. Illing, L. L. Molday, and R. S. Molday, “The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily,” Journal of Biological Chemistry, vol. 272, no. 15, pp. 10303–10310, 1997. View at Publisher · View at Google Scholar · View at Scopus
  2. M. Dean and T. Annilo, “Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates,” Annual Review of Genomics and Human Genetics, vol. 6, no. 1, pp. 123–142, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. J. Bhongsatiern, S. Ohtsuki, M. Tachikawa, S. Hori, and T. Terasaki, “Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain,” Journal of Neurochemistry, vol. 92, no. 5, pp. 1277–1280, 2005. View at Publisher · View at Google Scholar · View at Scopus
  4. R. Allikmets, N. Singh, H. Sun et al., “A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy,” Nature Genetics, vol. 15, no. 3, pp. 236–246, 1997. View at Publisher · View at Google Scholar · View at Scopus
  5. J. Weng, N. L. Mata, S. M. Azarian, R. T. Tzekov, D. G. Birch, and G. H. Travis, “Insights into the function of Rim protein in photoreceptors and etiology of Stargardt’s disease from the phenotype in abcr knockout mice,” Cell, vol. 98, no. 1, pp. 13–23, 1999. View at Publisher · View at Google Scholar · View at Scopus
  6. N. L. Mata, J. Weng, and G. H. Travis, “Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration,” Proceedings of the National Academy of Sciences of the United States of America, vol. 97, no. 13, pp. 7154–7159, 2000. View at Publisher · View at Google Scholar · View at Scopus
  7. B. Bocquet, A. Lacroux, M. O. Surget et al., “Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management,” Ophthalmic Epidemiology, vol. 20, no. 1, pp. 13–25, 2013. View at Publisher · View at Google Scholar · View at Scopus
  8. A. Maugeri, B. J. Klevering, K. Rohrschneider et al., “Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy,” The American Journal of Human Genetics, vol. 67, no. 4, pp. 960–966, 2000. View at Publisher · View at Google Scholar · View at Scopus
  9. M. Michaelides, A. J. Hardcastle, D. M. Hunt, and A. T. Moore, “Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis,” Survey of Ophthalmology, vol. 51, no. 3, pp. 232–258, 2006. View at Publisher · View at Google Scholar · View at Scopus
  10. C. P. Hamel, “Cone rod dystrophies,” Orphanet Journal of Rare Diseases, vol. 2, no. 1, p. 7, 2007. View at Publisher · View at Google Scholar · View at Scopus
  11. N. Lois, G. E. Holder, C. Bunce, F. W. Fitzke, and A. C. Bird, “Phenotypic subtypes of stargardt macular dystrophy-fundus flavimaculatus,” Archives of Ophthalmology, vol. 119, no. 3, pp. 359–369, 2001. View at Publisher · View at Google Scholar
  12. R. Allikmets, N. F. Shroyer, N. Singh et al., “Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration,” Science, vol. 277, no. 5333, pp. 1805–1807, 1997. View at Publisher · View at Google Scholar · View at Scopus
  13. R. Allikmets and International ABCR Screening Consortium, “Further evidence for an association of ABCR alleles with age-related macular degeneration,” The American Journal of Human Genetics, vol. 67, no. 2, pp. 487–491, 2000. View at Publisher · View at Google Scholar · View at Scopus
  14. L. El Matri, F. Ouechtati, A. Chebil, L. Largueche, and S. Abdelhak, “Clinical polymorphism of Stargardt disease in a large consanguineous Tunisian family; implications for nosology,” Journal of Ophthalmic & Vision Research, vol. 8, no. 4, pp. 341–350, 2013. View at Google Scholar
  15. A. N. Yatsenko, N. F. Shroyer, R. A. Lewis, and J. R. Lupski, “An ABCA4 genomic deletion in patients with Stargardt disease,” Human Mutation, vol. 21, no. 6, pp. 636–644, 2003. View at Publisher · View at Google Scholar · View at Scopus
  16. A. Maugeri, M. A. Van Driel, D. J. R. van de Pol et al., “The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease,” American Journal of Human Genetics, vol. 64, no. 4, pp. 1024–1035, 1999. View at Publisher · View at Google Scholar · View at Scopus
  17. M. Bertelsen, J. Zernant, M. Larsen, M. Duno, R. Allikmets, and T. Rosenberg, “Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies,” Investigative Ophthalmology & Visual Science, vol. 55, no. 4, pp. 2766–2776, 2014. View at Publisher · View at Google Scholar · View at Scopus
  18. A. Fakin, A. G. Robson, J. (P. W.) Chiang et al., “The effect on retinal structure and function of 15 specific ABCA4 mutations: a detailed examination of 82 hemizygous patients,” Investigative Ophthalmology & Visual Science, vol. 57, no. 14, pp. 5963–5973, 2016. View at Publisher · View at Google Scholar · View at Scopus
  19. K. Fujinami, N. Lois, A. E. Davidson et al., “A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations,” American Journal of Ophthalmology, vol. 155, no. 6, pp. 1075–1088.e13, 2013. View at Publisher · View at Google Scholar · View at Scopus
  20. R. A. Lewis, N. F. Shroyer, N. Singh et al., “Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease,” The American Journal of Human Genetics, vol. 64, no. 2, pp. 422–434, 1999. View at Publisher · View at Google Scholar · View at Scopus
  21. J. D. Armstrong, D. Meyer, S. Xu, and J. L. Elfervig, “Long-term follow-up of Stargardt’s disease and fundus flavimaculatus,” Ophthalmology, vol. 105, no. 3, pp. 448–457, 1998. View at Publisher · View at Google Scholar · View at Scopus
  22. K. Fuginami, N. Lois, R. Mukherjee et al., “A longitudinal study of stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations,” Investigative Ophthalmology & Visual Science, vol. 54, no. 13, pp. 8181–8190, 2013. View at Publisher · View at Google Scholar
  23. A. N. Yatsenko, N. F. Shroyer, R. Lewis, and J. Lupski, “Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4),” Human Genetics, vol. 108, no. 4, pp. 346–355, 2001. View at Publisher · View at Google Scholar · View at Scopus