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Educational paper

Retinal dystrophies and gene therapy

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Abstract

Retinal dystrophies are inherited disorders of photoreceptor and retinal pigment epithelial function that may result in severe visual impairment. Advances in molecular genetics have helped identify many of the gene defects responsible, and progress in gene transfer technology has enabled therapeutic strategies to be developed and applied. The first human clinical trials of gene therapy for RPE65 associated retinal dystrophy have shown promising initial results and have helped prepare the way for further trials of gene therapy for inherited retinal disorders. The results of these trials will provide further insight into the safety and efficacy of gene therapy for a range of currently untreatable and debilitating eye disorders.

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Acknowledgements

The authors acknowledge the National Institute for Health Research Biomedical Research Centre for Ophthalmology at Moorfields and University College London

Conflicts of interest

The authors have no financial no financial relationship with the organisations that sponsored the research.

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Authors and Affiliations

  1. Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK

    Venki Sundaram, Anthony T. Moore, Robin R. Ali & James W. Bainbridge

  2. Moorfields Eye Hospital, NHS Foundation Trust, City Road, London, EC1V 9PD, UK

    Venki Sundaram, Anthony T. Moore & James W. Bainbridge

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  1. Venki Sundaram
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  2. Anthony T. Moore
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  3. Robin R. Ali
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  4. James W. Bainbridge
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Correspondence to James W. Bainbridge.

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Sundaram, V., Moore, A.T., Ali, R.R. et al. Educational paper. Eur J Pediatr 171, 757–765 (2012). https://doi.org/10.1007/s00431-011-1615-2

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  • DOI: https://doi.org/10.1007/s00431-011-1615-2

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