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Retinal Function in Aging Homozygous Cln3 Δex7/8 Knock-In Mice

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Retinal Degenerative Diseases

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

Abstract

Neuronal ceroid lipofuscinoses (NCL) are characterized by lysosomal accumulation of autofluorescent material and lead to degeneration of the central nervous system. Patients affected by the juvenile form of NCL (JNCL), the most common form of the disease, develop visual failure prior to mental and motor deficits. It is currently unclear if the corresponding mouse model, Cln3 Δex7/8 knock-in, develops the same retinal phenotype and electroretinogram (ERG) measurements as affected patients. The aim of our study was to investigate the visual disease progression in the Cln3 Δex7/8 mice using scotopic and photopic ERGs as well as optokinetic tracking (OKT) at different ages. The results were then compared with age-matched controls.

The amplitudes of the a-wave and b-wave (scotopic ERG) decrease significantly in Cln3 Δex7/8 mice starting at the age of 12 months. A reduction in the b/a-amplitude ratio indicates a degeneration preferentially of the inner retina. An amplitude reduction observed in the Cln3 +/+ control mice may be attributed to an additional Crb1 rd8 mutation. Using optokinetic tracking (OKT) the Cln3 Δex7/8 mice show a progressive decline in visual acuity after 12 months of age.

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Acknowledgment

We would like to thank Dr. Klaus Rüther for providing Cln3 Δex7/8 mice. We thank Dr. Frank Stehr for his support. This work was funded by the NCL-Foundation and the Auerbach foundation.

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Authors and Affiliations

  1. Department of Ophthalmology, University Eye Clinic Regensburg, Franz-Josef-Strauß Allee 11, 93053, Regensburg, Germany

    Cornelia Volz & Herbert Jägle

  2. Instutute of Human Genetics, University of Regensburg, Regensburg, Germany

    Myriam Mirza

  3. Department of Experimental Immunology of the Eye, University of Cologne, Cologne, Germany

    Myriam Mirza & Thomas Langmann

Authors
  1. Cornelia Volz
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  2. Myriam Mirza
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  3. Thomas Langmann
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  4. Herbert Jägle
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Corresponding author

Correspondence to Cornelia Volz .

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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Volz, C., Mirza, M., Langmann, T., Jägle, H. (2014). Retinal Function in Aging Homozygous Cln3 Δex7/8 Knock-In Mice. 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_63

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  • DOI: https://doi.org/10.1007/978-1-4614-3209-8_63

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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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