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  • Review Article
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The optic nerve head in hereditary optic neuropathies

Nature Reviews Neurology volume 5, pages 277–287 (2009)Cite this article

Abstract

Hereditary optic neuropathies are a prominent cause of blindness in both children and adults. The disorders in this group share many overlapping clinical characteristics, including morphological changes that occur at the optic nerve head. Accurate and prompt clinical diagnosis, supplemented with imaging when indicated, is essential for optimum management of the relevant optic neuropathy and appropriate counseling of the patient on its natural history. Patient history, visual field assessment, optic disc findings and imaging are the cornerstones of a correct diagnosis. This Review highlights the characteristic optic nerve head features that are common to the various hereditary optic neuropathies, and describes the features that enable the conditions to be differentiated.

Key Points

  • Hereditary optic neuropathies are disorders in which optic neuropathy seems to be heritable, as demonstrated by familial expression or genetic analysis

  • Diagnosis of hereditary optic neuropathies depends on accurate examination of optic nerve head morphology, correlated with clinical presentation and optic nerve function assessment

  • This article describes the unique and shared morphological features of the optic nerve head in the various hereditary optic neuropathies

  • Objective imaging methods for assessing the optic nerve head and retinal nerve fiber layer are an adjunct in the diagnosis and management of hereditary optic neuropathies

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Figure 1: Optic nerve head photographs taken with a fundus camera, showing normal optic discs.
Figure 2: Imaging modalities used to objectively assess the optic nerve head and the thickness of the RNFL.
Figure 3: Optic nerve head photographs from patients with autosomal dominant optic atrophy or Wolfram syndrome, taken with a fundus camera.
Figure 4: Optic nerve head photographs from patients with Leber hereditary optic neuropathy, taken with a fundus camera.
Figure 5: Optic nerve head photographs from patients with glaucoma, taken with a fundus camera.

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Acknowledgements

This work was supported by the Australian National Health and Medical Research Council, the Ophthalmic Research Institute of Australia, and Glaucoma Australia.

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Authors and Affiliations

  1. Center for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia

    Evelyn C. O'Neill, Paul P. Connell, Alex W. Hewitt & Jonathan G. Crowston

  2. Department of Ophthalmology, Royal Hobart Hospital, University of Tasmania, Hobart, Australia

    David A. Mackey

  3. Department of Ophthalmology, University of Auckland, Auckland, New Zealand

    Helen V. Danesh-Meyer

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O'Neill, E., Mackey, D., Connell, P. et al. The optic nerve head in hereditary optic neuropathies. Nat Rev Neurol 5, 277–287 (2009). https://doi.org/10.1038/nrneurol.2009.40

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