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Hereditary Optic Neuropathies

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Albert and Jakobiec's Principles and Practice of Ophthalmology

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Abstract

The hereditary optic neuropathies consist of a group of disorders in which optic nerve dysfunction is either isolated or part of a systemic disease, and direct inheritance is clinically or genetically proven. The most common of these disorders are autosomal dominant optic atrophy (DOA) and maternally inherited Leber hereditary optic neuropathy (LHON) (Newman, Hereditary optic neuropathies. In: Miller NR, Newman NJ, Biousse V, Kerrison JB (eds) Walsh & Hoyt clinical neuro-ophthalmology, vol 1, 6th edn. Williams & Wilkins, Baltimore, pp 465–501, 2005). Other inherited neurologic and systemic syndromic diseases are frequently associated with optic neuropathies as in the case of Wolfram syndrome. A selective vulnerability of the optic nerve to perturbations in mitochondrial function may underlie a final common pathway among many of these disorders.

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Authors and Affiliations

  1. Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

    Rustum Karanjia

  2. Doheny Eye Institute, Los Angeles, CA, USA

    Rustum Karanjia

  3. Department of Ophthalmology, University of Ottawa Eye Institute, Ottawa, ON, Canada

    Rustum Karanjia

  4. The Ottawa Hospital, Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Rustum Karanjia

  5. LeoDelle Jolley Chair in Ophthalmology Director, Section of Neuro-ophthalmology, Professor of Ophthalmology and Neurology, Instructor of Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA

    Nancy J. Newman

  6. Clinical Senior Lecturer and Honorary Consultant Ophthalmologist, University of Cambridge, Cambridge, UK

    Patrick Yu-Wai-Man

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  1. Rustum Karanjia
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Correspondence to Nancy J. Newman .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, Oregon Health & Science University Department of Ophthalmology, Portland, OR, USA

    Daniel Albert

  2. Massachusetts Eye and Ear, Boston, MA, USA

    Joan Miller

  3. Department of Ophthalmology, University of Illinois at Chicago Department of Ophthalmology, Chicago, IL, USA

    Dimitri Azar

  4. Department of Ophthalmology, Harvard Medical School, Boston, MA, USA

    Lucy H. Young

Section Editor information

  1. McGill University, Montreal, Canada

    Leonard Levin

  2. Massachusetts Eye and Ear, Boston, USA

    Dean Cestari

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Karanjia, R., Yu-Wai-Man, P., Newman, N.J. (2021). Hereditary Optic Neuropathies. In: Albert, D., Miller, J., Azar, D., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-319-90495-5_45-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-90495-5

  • Online ISBN: 978-3-319-90495-5

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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