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  • Review Article
  • Published:

Ophthalmic manifestations of inherited neurodegenerative disorders

Nature Reviews Neurology volume 10, pages 349–362 (2014)Cite this article

Subjects

Key Points

  • Inherited neurodegenerative diseases are associated with a wide range of ocular abnormalities, which can cause substantial disability

  • Ophthalmic findings can aid the genetic diagnosis of some neurodegenerative conditions; this diagnosis might, in turn, direct the clinician towards careful examination of the visual systems to provide useful adjunctive information

  • In some patients, ophthalmic manifestations are the earliest symptoms of inherited neurodegenerative disease

  • An increasing body of evidence indicates that ophthalmic findings can act as surrogate markers of disease progression in patients with inherited neurodegenerative conditions

  • Optical coherence tomography is emerging as a useful tool for quantifying retinal and optic nerve findings in patients with neurodegenerative disease

  • The role of mitochondrial dysfunction in inherited neurodegenerative disease has been well established, and ophthalmic involvement is a common manifestation of this dysfunction

Abstract

Ophthalmic findings are common features of neurodegenerative disorders and, in addition to being clinically important, have emerged as potentially useful biomarkers of disease progression in several conditions. Clinically, these visual system abnormalities can be a clue to diagnosis, as well as being a prominent cause of disability in affected patients. In this Review, we describe the various afferent visual system and other ophthalmic features of inherited neurodegenerative disorders, including the muscular dystrophies, Friedreich ataxia, the spinocerebellar ataxias, hereditary spastic paraplegia, Charcot–Marie–Tooth disease, and other conditions. We focus on the expanding role of optical coherence tomography in diagnostic imaging of the retina and optic nerve head, and the possible use of ophthalmic findings as biomarkers of disease severity in hereditary neurodegenerative disorders. In addition, we discuss the ophthalmic manifestations and treatment implications of mitochondrial dysfunction, which is a feature of many inherited neurodegenerative diseases.

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Figure 1: Macular pigment changes in myotonic dystrophy type 1.
Figure 2: Epiretinal membrane in myotonic dystrophy type 1.
Figure 3: Spectral domain optical coherence tomography of RNFL thickness in Friedreich ataxia.

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Authors and Affiliations

  1. Department of Ophthalmology, University of Auckland, Private Bag 92019, Auckland, 1142, New Zealand

    Hannah M. Kersten & Helen V. Danesh-Meyer

  2. Centre for Brain Research, University of Auckland, Private Bag 92019, Auckland, 1142, New Zealand

    Richard H. Roxburgh

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H.M.K. researched the data for the article and wrote the text. All authors made substantial contributions to discussions of the content and to review and/or editing of the manuscript before submission.

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Correspondence to Helen V. Danesh-Meyer.

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H.V.D.-M. has received research grants from Alcon Laboratories, Allergan Limited and the Eye Institute (Auckland, New Zealand). H.M.K and R.H.R. declare no competing interests.

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Kersten, H., Roxburgh, R. & Danesh-Meyer, H. Ophthalmic manifestations of inherited neurodegenerative disorders. Nat Rev Neurol 10, 349–362 (2014). https://doi.org/10.1038/nrneurol.2014.79

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