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Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease

By Quansheng Xi, Lin Li, Elias I. Traboulsi and Qing Kenneth Wang
Topics: Research Article
Publisher: Molecular Vision
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Provided by: PubMed Central

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  1. (2001). A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet
  2. (1999). A new locus for autosomal dominant Stargardtlike disease maps to chromosome 4.
  3. (1997). A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet
  4. (2000). ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet
  5. (2005). Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat
  6. (1999). Deutman AF, Hoyng CB, Cremers FP. 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.
  7. (2009). Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.
  8. (1999). Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell
  9. (1997). Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science
  10. (2004). N-retinylidenephosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR).
  11. (1998). Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene
  12. (2009). Pinckers AJ, Deutman AF, Hoyng CB. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 1998; 7:355-62. [PMID: 9466990] Molecular Vision
  13. (1999). Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.
  14. (1998). Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet
  15. (1998). Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
  16. (2007). Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. Invest Ophthalmol Vis Sci
  17. (1997). The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily.

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