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Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects

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Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1185))

Abstract

Leber congenital amaurosis (LCA) caused by AIPL1 mutations is one of the most severe forms of inherited retinal degeneration (IRD). The rapid and extensive photoreceptor degeneration challenges the development of potential treatments. Nevertheless, preclinical studies show that both gene augmentation and photoreceptor transplantation can regenerate and restore retinal function in animal models of AIPL1-associated LCA. However, questions regarding long-term benefit and safety still remain as these therapies advance towards clinical application. Ground-breaking advances in stem cell technology and genome editing are examples of alternative therapeutic approaches and address some of the limitations associated with previous methods. The continuous development of these cutting-edge biotechnologies paves the way towards a bright future not only for AIPL1-associated LCA patients but also other forms of IRD.

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Author information

Authors and Affiliations

  1. UCL Institute of Ophthalmology, London, UK

    Pedro R. L. Perdigao & Jacqueline van der Spuy

Authors
  1. Pedro R. L. Perdigao
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  2. Jacqueline van der Spuy
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Corresponding author

Correspondence to Jacqueline van der Spuy .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, Duke University, Durham, NC, USA

    Catherine Bowes Rickman

  2. Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland

    Christian Grimm

  3. Health Sciences Center, University of Oklahoma, Oklahoma City, OK, USA

    Robert E. Anderson

  4. Ophthalmology, University of Florida, Gainesville, FL, USA

    John D. Ash

  5. Beckman Vision Center, University of California, San Francisco, San Fancisco, CA, USA

    Matthew M. LaVail

  6. Department of Ophthalmology, Case Western Reserve University, Cleveland, OH, USA

    Joe G. Hollyfield

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Perdigao, P.R.L., van der Spuy, J. (2019). Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects. In: Bowes Rickman, C., Grimm, C., Anderson, R., Ash, J., LaVail, M., Hollyfield, J. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 1185. Springer, Cham. https://doi.org/10.1007/978-3-030-27378-1_16

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