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Graefe's Archive for Clinical and Experimental Ophthalmology

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01-06-2018 | Letter to the Editor (by invitation)

Mitochondrial A3243G mutation results in corneal endothelial polymegathism

Authors: Stephen Tsang, Mathieu Bakhoum, Jesse Sengillo

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 6/2018

Excerpt

We would like to thank Finsterer and Zarrouk-Mahjoub for their interest in our recent findings. Macular dystrophy due to the mitochondrial DNA (mtDNA) A3243G point mutation can manifest with associated ocular and systemic features that are important for specialists to identify [1]. Our case series suggests that corneal endothelial polymegathism is associated with mtDNA A3243G mutations, and in agreeance with the responding authors, our original submission emphasizes that future prospective studies are necessary to determine the utility of corneal endothelial polymegathism as a biomarker for mitochondrial diseases [2]. …

Michaelides M (2008) Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Arch Ophthalmol 126:320–328. https://doi.org/10.1001/archopht.126.3.320

Bakhoum MF, Wu W-P, White EC et al (2018) Mitochondrial A3243G mutation results in corneal endothelial polymegathism. Graefes Arch Clin Exp Ophthalmol 256:583–588. https://doi.org/10.1007/s00417-018-3914-z

Title: Mitochondrial A3243G mutation results in corneal endothelial polymegathism
Authors: Stephen Tsang
Mathieu Bakhoum
Jesse Sengillo
Publication date: 01-06-2018
Publisher: Springer Berlin Heidelberg
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 6/2018
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-018-3961-5

At a glance: The STEP trials

Springer Medicine

Mitochondrial A3243G mutation results in corneal endothelial polymegathism

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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