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Leber Hereditary Optic Neuropathy

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Encyclopedia of Ophthalmology

Synonyms

Leber optic atrophy; LHON

Definition

Leber hereditary optic neuropathy is an inherited disease that causes degeneration of retinal ganglion cells and bilateral visual loss.

Etiology

LHON is caused by mitochondrial DNA mutations and is maternally inherited. The most frequent disease causing mutation is a single base pair mutation at position 11778. Mutations at positions 3460 and 14484 are the next most common mutations. These mitochondrial mutations lead to impaired mitochondrial adenosine triphosphate production, which affects highly energy-dependent cells such as the retinal ganglion cells and leads to degeneration of the optic nerve and visual loss. Not everyone harboring one of these mitochondrial mutations will develop the disease. It is estimated that up to 50 % of males and 85 % of females that have a mutations will develop no signs or symptoms of the disease. This variable penetrance and expressivity can make a positive family history hard to elicit. In addition, the...

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Further Reading

  • Newman NJ (1993) Leber’s hereditary optic neuropathy new genetic considerations. Arch Neurol 50(5):540–548

    Article  CAS  PubMed  Google Scholar 

  • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995) The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118(Pt 2):319–337

    Article  PubMed  Google Scholar 

  • Skuta GL, Cantor LB, Weiss JS (2009) Basic and clinical science course: section 5 neuro-ophthalmology. American Academy of Ophthalmology, San Francisco, pp 137–138

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Author information

Authors and Affiliations

  1. Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Methodist Eye Associate, Houston, TX, USA

    Sumayya J. Almarzouqi, Michael L. Morgan & Andrew G. Lee

  2. Departments of Ophthalmology Neurology, and Neurosurgery, Weill Cornell Medical College, Houston, TX, USA

    Andrew G. Lee

  3. Department of Ophthalmology, The University of Texas Medical Branch, Galveston, TX, USA

    Andrew G. Lee

  4. Department of Ophthalmology, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA

    Nathan Law & Andrew G. Lee

  5. Department of Ophthalmology, The University of Iowa Hospitals and Clinics, Iowa City, IA, USA

    Andrew G. Lee

  6. Department of Ophthalmology, Houston Methodist Hospital, 6560 Fannin Street, Scurlock 450, Houston, Houston, TX, 77030, USA

    Andrew G. Lee

Authors
  1. Nathan Law
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  2. Sumayya J. Almarzouqi
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  3. Michael L. Morgan
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  4. Andrew G. Lee
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Corresponding author

Correspondence to Andrew G. Lee .

Editor information

Editors and Affiliations

  1. Dept of Ophthal & Optometry,AKH, Medical University of Wien Dept of Ophthal & Optometry,AKH, Wien, Austria

    Ursula Schmidt-Erfurth

  2. Department of Ophthalmology, Goethe University of Frankfurt am Main Department of Ophthalmology, Frankfurt am Main, Germany

    Thomas Kohnen

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© 2015 Springer-Verlag Berlin Heidelberg (outside the USA)

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Law, N., Almarzouqi, S.J., Morgan, M.L., Lee, A.G. (2015). Leber Hereditary Optic Neuropathy. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1202-1

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  • DOI: https://doi.org/10.1007/978-3-642-35951-4_1202-1

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-35951-4

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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