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Peroxisomal Disorders and Retinal Degeneration

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Retinal Degenerative Diseases

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

Abstract

Peroxisomal disorders are a group of inherited metabolic diseases, which can be incompatible with life in the postnatal period or allow survival into adulthood. Retinopathy is a recurrent feature in both the severely and mildly affected patients, which can be accompanied with other ophthalmological pathologies. Thanks to next-generation sequencing, patients originally identified with other inherited blinding diseases were reclassified as suffering from peroxisomal disorders. In addition, new peroxisomal gene defects or disease presentations exhibiting retinal degeneration were recently identified. The pathogenic mechanisms underlying retinopathy in peroxisomal disorders remain unresolved.

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Author information

Authors and Affiliations

  1. KU Leuven – University of Leuven, Department for Pharmaceutical and Pharmacological Sciences, Lab for Cell Metabolism, Leuven, Belgium

    Yannick Das & Myriam Baes

Authors
  1. Yannick Das
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  2. Myriam Baes
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Corresponding author

Correspondence to Myriam Baes .

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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Das, Y., Baes, M. (2019). Peroxisomal Disorders and Retinal Degeneration. 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_52

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