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Ocular Manifestations of Neurocutaneous Syndromes

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Neurocutaneous Disorders

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Abstract

Ocular findings are prominent features of many neurocutaneous syndromes. In fact, the retinal findings in tuberous sclerosis, neurofibromatosis and von Hippel-Lindau syndrome were included in the original description of phakomatosis lens-shaped birthmark, a term first introduced by the Dutch ophthalmologist van der Hoeve in 1932. Since then, the description has expanded to include other syndromes without retinal lesions under the broad category of neurocutaneous syndromes. Ocular manifestations are of particular importance for clinical diagnosis of the major neurocutaneous syndromes. In some cases, visual morbidity can also be significant.

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Authors and Affiliations

  1. University of Ottawa, Ottawa, ON, Canada

    Trisha Kandiah & Deeksha Kundapur

  2. Department of Ophthalmology, University of Ottawa, Ottawa, ON, Canada

    Michael D. O’Connor

Authors
  1. Trisha Kandiah
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  2. Deeksha Kundapur
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  3. Michael D. O’Connor
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Corresponding author

Correspondence to Michael D. O’Connor .

Editor information

Editors and Affiliations

  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  2. Department of Neurology, University of Washington, Seattle, WA, USA

    Ramsis Benjamin

  3. Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Christian Hagel

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Kandiah, T., Kundapur, D., O’Connor, M.D. (2022). Ocular Manifestations of Neurocutaneous Syndromes. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_47

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  • DOI: https://doi.org/10.1007/978-3-030-87893-1_47

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  • Publisher Name: Springer, Cham

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  • Online ISBN: 978-3-030-87893-1

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