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Neuro-Ophthalmology Volume 47, 2023 - Issue 5-6
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Case Report

Clinically Diagnosed Occult Macular Dystrophy Habouring an m.14502T>C Mitochondrial DNA Mutation Associated with Leber’s Hereditary Optic Neuropathy: Case Report and Literature Review

Han Peng Zhoua Department of Ophthalmology, The University of Tokyo Hospital, Tokyo, JapanCorrespondence[email protected]
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,
Hiromasa Sawamuraa Department of Ophthalmology, The University of Tokyo Hospital, Tokyo, JapanView further author information
,
Natsuko Nakamuraa Department of Ophthalmology, The University of Tokyo Hospital, Tokyo, JapanView further author information
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Akiko Yamagamia Department of Ophthalmology, The University of Tokyo Hospital, Tokyo, Japan;b Department of Neuro-Ophthalmology, Inoue Eye Hospital, Chiyoda-Ku, JapanView further author information
,
Ryoma Yasumotoc Department of Clinical Laboratory, Kitasato University Hospital, Sagamihara, JapanView further author information
,
Kyoko Kasaic Department of Clinical Laboratory, Kitasato University Hospital, Sagamihara, JapanView further author information
,
Ryo Obataa Department of Ophthalmology, The University of Tokyo Hospital, Tokyo, JapanView further author information
&
Makoto Aiharaa Department of Ophthalmology, The University of Tokyo Hospital, Tokyo, JapanView further author information
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Pages 285-290 | Received 06 Apr 2023, Accepted 24 May 2023, Published online: 05 Jul 2023

References

  • Meyerson C, Stavern GV, McClelland C. Leber hereditary optic neuropathy: current perspectives. Clin Ophthalmol. 2015;9:1165–1176. doi:10.2147/OPTH.S62021.
  • Zhou HP, Ishikawa H, Yasumoto R, Sakurai K, Sawamura H. Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation. Can J Ophthalmol. 2021;56:e82–e84. doi:10.1016/j.jcjo.2020.12.022.
  • Guo H, Li S, Dai L, et al. Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China. Mitochondrion. 2019;46:327–333. doi:10.1016/j.mito.2018.09.002.
  • Zhao F, Guan M, Zhou X, et al. Leber’s hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation. Biochem Biophys Res Commun. 2009;389(3):466–472. doi:10.1016/j.bbrc.2009.08.168.
  • Zhang S, Wang L, Hao Y, et al. T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber’s hereditary optic neuropathy in a Chinese family. Mitochondrion. 2008;8(3):205–210. doi:10.1016/j.mito.2008.02.003.
  • Qian Y, Zhou X, Hu Y, et al. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber’s hereditary optic neuropathy. Biochem Biophys Res Commun. 2005;332(2):614–621. doi:10.1016/j.bbrc.2005.05.003.
  • Jin X, Wang L, Gong Y, et al. Leber’s hereditary optic neuropathy is associated with compound primary mutations of mitochondrial ND1 m.3635G>A and ND6 14502T>C. Ophthalmic Genet. 2015;36:291–298. doi:10.3109/13816810.2013.871637.
  • Borrelli E, Triolo G, Cascavilla ML, et al. Changes in choroidal thickness follow the RNFL changes in leber’s hereditary optic neuropathy. Sci Rep. 2016;6(1):37332. doi:10.1038/srep37332.
  • Darvizeh F, Asanad S, Falavarjani KG, et al. Choroidal thickness and the retinal ganglion cell complex in chronic Leber’s hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography. Eye (Lond). 2020;39:1624–1630. doi:10.1038/s41433-019-0695-5.
  • Nakamura N, Tsunoda K, Mizuno Y, et al. Clinical stages of occult macular dystrophy based on optical coherence tomographic findings. Invest Ophthalmol Vis Sci. 2019;60(14):4691–4700. doi:10.1167/iovs.19-27486.

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