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Corrigendum Free access | 10.1172/JCI45855

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

Anneke I. den Hollander, Aaron Black, Jean Bennett, and Frans P.M. Cremers

Find articles by den Hollander, A. in: JCI | PubMed | Google Scholar

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Published December 22, 2010 - More info

Published in Volume 121, Issue 1 on January 4, 2011
J Clin Invest. 2011;121(1):456–456. https://doi.org/10.1172/JCI45855.
© 2010 The American Society for Clinical Investigation
Published December 22, 2010 - Version history
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Related article:

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
Anneke I. den Hollander, … , Jean Bennett, Frans P.M. Cremers
Anneke I. den Hollander, … , Jean Bennett, Frans P.M. Cremers
Review

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

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Abstract

Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photoreceptor and retinal pigment epithelium cells. These diseases until recently have been considered to be incurable. Molecular genetic studies in the last two decades have revealed the underlying molecular causes in approximately two-thirds of patients. The mammalian eye has been at the forefront of therapeutic trials based on gene augmentation in humans with an early-onset nonsyndromic recessive retinal dystrophy due to mutations in the retinal pigment epithelium–specific protein 65kDa (RPE65) gene. Tremendous challenges still lie ahead to extrapolate these studies to other retinal disease–causing genes, as human gene augmentation studies require testing in animal models for each individual gene and sufficiently large patient cohorts for clinical trials remain to be identified through cost-effective mutation screening protocols.

Authors

Anneke I. den Hollander, Aaron Black, Jean Bennett, Frans P.M. Cremers

×

Original citation: J. Clin. Invest. 2010;120(9):3042–3053. doi:10.1172/JCI42258.

Citation for this corrigendum: J. Clin. Invest. 2011;121(1):456–457. doi:10.1172/JCI45855.

During the preparation of this manuscript, a number of references in table 1 were given incorrectly and references 142 through 150 were omitted from the table and the reference list. The correct table and additional references appear below.

Table 1

Nonsyndromic recessive retinal dystrophy genes, their associated human phenotypes, animal models, and gene therapy studies

The authors regret the error.

References
  1. Batten ML, et al. Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver. J Biol Chem. 2004;279(11):10422–10432.
    View this article via: PubMed Google Scholar
  2. Liu L. Gudas LJ. Disruption of the lecithin:retinol acyltransferase gene makes mice more susceptible to vitamin A deficiency. J Biol Chem. 2005;280(48):40226–40234.
    View this article via: PubMed Google Scholar
  3. Ruiz A, et al. Somatic ablation of the Lrat gene in the mouse retinal pigment epithelium drastically reduces its retinoid storage. Invest Ophthalmol Vis Sci. 2007;48(12):5377–5387.
    View this article via: PubMed Google Scholar
  4. Batten ML, et al. Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis. PLoS Med. 2005;2(11):e333.
    View this article via: PubMed Google Scholar
  5. D’Cruz PM, et al. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum Mol Genet. 2000;9(4):645–651.
    View this article via: PubMed Google Scholar
  6. Duncan JL, et al. Inherited retinal dystrophy in Mer knockout mice. Adv Exp Med Biol. 2003;533:165–172.
    View this article via: PubMed Google Scholar
  7. Haider NB, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24(2):127–131.
    View this article via: PubMed Google Scholar
  8. Corbo JC. Cepko CL. A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. PLoS Genet. 2005;1(2):e11.
    View this article via: PubMed Google Scholar
  9. Webber AL, et al. Dual role of Nr2e3 in photoreceptor development and maintenance. Exp Eye Res. 2008;87(1):35–48.
    View this article via: PubMed Google Scholar
  10. Mears AJ, et al. Nrl is required for rod photoreceptor development. Nat Genet. 2001;29(4):447–452.
    View this article via: PubMed Google Scholar
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