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Fluorescence Lifetime Imaging Ophthalmoscopy pp 89–98Cite as

Hereditary Retinal Diseases: Stargardt, Choroideremia, Retinitis Pigmentosa

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Abstract

Hereditary retinal diseases summarize a broad range of genetic disorders with different clinical manifestations. Depending on the genetic mutation, primarily the cones, the rods, or both types of photoreceptors are affected, determining the symptoms and signs of the affected patients.

In this chapter, results of FLIO findings in the most common hereditary retinal diseases including Stargardt disease, choroideremia, and retinitis pigmentosa are summarized.

Characteristic FLIO patterns are observed for every disease. In comparison to commonly used imaging techniques, FLIO provides additional information including evolution of flecks in Stargardt disease, and the integrity of photoreceptor layers in absence of the RPE in choroideremia and retinitis pigmentosa. Regarding early detection or retinal changes in hereditary retinal diseases as well as for diagnostic purposes and follow-up documentation also in the context of upcoming therapeutic interventions, FLIO might provide additional information in comparison to conventional imaging techniques.

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Author information

Authors and Affiliations

  1. Department of Ophthalmology and Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland

    Chantal Dysli

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

    Yasmin Solberg

  3. Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT, USA

    Lydia Sauer

Authors
  1. Chantal Dysli
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  2. Yasmin Solberg
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  3. Lydia Sauer
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Corresponding author

Correspondence to Chantal Dysli .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology and Department of Clinical Research, Inselspital Bern University Hospital, University of Bern, Bern, Switzerland

    Martin Zinkernagel

  2. Department of Ophthalmology and Department of Clinical Research, Inselspital Bern University Hospital, University of Bern, Bern, Switzerland

    Chantal Dysli

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Dysli, C., Solberg, Y., Sauer, L. (2019). Hereditary Retinal Diseases: Stargardt, Choroideremia, Retinitis Pigmentosa. In: Zinkernagel, M., Dysli, C. (eds) Fluorescence Lifetime Imaging Ophthalmoscopy. Springer, Cham. https://doi.org/10.1007/978-3-030-22878-1_15

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  • DOI: https://doi.org/10.1007/978-3-030-22878-1_15

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-22877-4

  • Online ISBN: 978-3-030-22878-1

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