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Cardiac conduction abnormalities in Leber Hereditary Optic Neuropathy and asymptomatic maternal relatives

Eye volume 37, pages 3050–3051 (2023)Cite this article

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Leber Hereditary Optic Neuropathy (LHON), first described by Leber in 1871, is an inherited optic neuropathy that usually causes blindness [1]. LHON is classically caused by mitochondrial dysfunction; over 95% of LHON pedigrees are associated with one of three mtDNA mutations, including mt. 3460G>A, mt. 11778G>A, and mt. 14484T>C [2], which affect complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain [2, 3].

Cardiac arrhythmias have been described in individuals affected by LHON, and also in their maternal asymptomatic relatives, including pre-excitation syndrome on 12-lead electrocardiogram, and Wolff-Parkinson-White syndrome [4, 5], though the finding is described as rare [6]. The role of mitochondrial dysfunction causing heterogeneity of cardiac electrical activity has been implicated in cardiac arrhythmia potentially triggering fatal arrhythmias under metabolic stress conditions [7].

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References

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Funding

Funding

This research was funded by Fighting Blindness grant number FB21STE and the Eithne Walls Fellowship, Trinity College Dublin.

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Authors and Affiliations

  1. Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin, D02 XK51, Ireland

    Clare Quigley, Glynis Hanrahan, Kirk Stephenson & Lorraine Cassidy

  2. Department of Anaesthetics, Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin, D02 XK51, Ireland

    Saba Ahmed & Muhammad Mukhtar

Authors
  1. Clare Quigley
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  2. Glynis Hanrahan
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  3. Kirk Stephenson
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  4. Saba Ahmed
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  5. Muhammad Mukhtar
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  6. Lorraine Cassidy
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Contributions

Conceptualization, CQ, LC and KS; methodology, GH, KS and CQ; formal analysis, CQ, SA and MM; investigation, GH, SA and CQ; writing—original draft preparation, CQ; writing—review and editing, KS and CQ; supervision, MM and LC; funding acquisition, KS and CQ. All authors have read and agreed to the published version of the manuscript.

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Correspondence to Clare Quigley.

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Quigley, C., Hanrahan, G., Stephenson, K. et al. Cardiac conduction abnormalities in Leber Hereditary Optic Neuropathy and asymptomatic maternal relatives. Eye 37, 3050–3051 (2023). https://doi.org/10.1038/s41433-023-02466-3

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  • DOI: https://doi.org/10.1038/s41433-023-02466-3

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