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Mitochondrial Retinal Dystrophy Associated with the (m.3243A>G) Mutation

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Macular Dystrophies

Abstract

Mitochondrial retinal dystrophy (MRD) is a maternally inherited, progressive retinal dystrophy caused by a mitochondrial mutation. MRD can be classified into four disease grades and is associated with systemic abnormalities such as maternally inherited diabetes and deafness, and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. The fovea tends to be spared in MRD, with a relatively preserved visual acuity.

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Correspondence to Camiel J. F. Boon MD, PhD, FEBOphth .

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Boon, C.J.F., Massin, P. (2016). Mitochondrial Retinal Dystrophy Associated with the (m.3243A>G) Mutation. In: Querques, G., Souied, E. (eds) Macular Dystrophies. Springer, Cham. https://doi.org/10.1007/978-3-319-26621-3_8

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  • DOI: https://doi.org/10.1007/978-3-319-26621-3_8

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