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Mitochondrial disorders and the eye

Authors Van Bergen NJ, Chakrabarti R, O’Neill EC, Crowston JG, Trounce IA

Published Date September 2011 Volume 2011:3 Pages 29—47

DOI http://dx.doi.org/10.2147/EB.S16192

Published 27 September 2011

Nicole J Van Bergen, Rahul Chakrabarti, Evelyn C O'Neill, Jonathan G Crowston, Ian A Trounce
Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Victoria, Australia

Abstract: The clinical significance of disturbed mitochondrial function in the eye has emerged since mitochondrial DNA (mtDNA) mutation was described in Leber's hereditary optic neuropathy. The spectrum of mitochondrial dysfunction has become apparent through increased understanding of the contribution of nuclear and somatic mtDNA mutations to mitochondrial dynamics and function. Common ophthalmic manifestations of mitochondrial dysfunction include optic atrophy, pigmentary retinopathy, and ophthalmoplegia. The majority of patients with ocular manifestations of mitochondrial disease also have variable central and peripheral nervous system involvement. Mitochondrial dysfunction has recently been associated with age-related retinal disease including macular degeneration and glaucoma. Therefore, therapeutic targets directed at promoting mitochondrial biogenesis and function offer a potential to both preserve retinal function and attenuate neurodegenerative processes.

Keywords: mitochondria, disease, retina, eye, aging, neuroprotection

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