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Current Therapeutic Strategies for P23H RHO-Linked RP

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Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 801))

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Abstract

The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO). Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. Herein, we review current thinking of this topic.

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Author information

Authors and Affiliations

  1. The Ocular Genetics Unit, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland

    Anh T. H. Nguyen, Matthew Campbell, Anna-Sophia Kiang, Marian M. Humphries & Peter Humphries

Authors
  1. Anh T. H. Nguyen
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  2. Matthew Campbell
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  3. Anna-Sophia Kiang
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  4. Marian M. Humphries
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  5. Peter Humphries
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Corresponding author

Correspondence to Anh T. H. Nguyen .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, University of Florida, Gainesville, Florida, USA

    John D. Ash

  2. University Hospital Zurich, Zurich, Switzerland

    Christian Grimm

  3. Cole Eye Institute at the Cleveland Clin Division of Ophthalmology, Cleveland, Ohio, USA

    Joe G. Hollyfield

  4. Dean A. McGee Eye Inst., University of Oklahoma Health Science Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

  5. Beckman Vision Center, University of California, San Francisco School of Medicine, San Francisco, California, USA

    Matthew M. LaVail

  6. Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA

    Catherine Bowes Rickman

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Nguyen, A., Campbell, M., Kiang, AS., Humphries, M., Humphries, P. (2014). Current Therapeutic Strategies for P23H RHO-Linked RP. In: Ash, J., Grimm, C., Hollyfield, J., Anderson, R., LaVail, M., Bowes Rickman, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 801. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3209-8_60

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  • DOI: https://doi.org/10.1007/978-1-4614-3209-8_60

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-3208-1

  • Online ISBN: 978-1-4614-3209-8

  • eBook Packages: MedicineMedicine (R0)

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