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Nat Rev Neurol. 2014 Jun;10(6):349-62. doi: 10.1038/nrneurol.2014.79. Epub 2014 May 20.

Ophthalmic manifestations of inherited neurodegenerative disorders.

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


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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