Ophthalmic manifestations of inherited neurodegenerative disorders

Hannah M. Kersten, Richard H. Roxburgh, Helen V. Danesh-Meyer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)349–362
Number of pages14
JournalNature Reviews Neurology
Issue number6
Early online date20 May 2014
Publication statusPublished - Jun 2014


  • diagnostic markers
  • eye manifestations
  • neurodegenerative diseases
  • visual system


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