Polymegathism as a biomarker of mitochondrial disorders

  • Josef Finsterer
  • Sinda Zarrouk-Mahjoub
Letter to the Editor


Authors’ contribution

JF: design, literature search, discussion, and first draft. SZ-M: literature search, discussion, and critical comments.

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflicts of interest.


  1. 1.
    Bakhoum MF, Wu WP, White EC et al. (2018) Mitochondrial A3243G mutation results in corneal endothelial polymegathism. Graefes Arch Clin Exp Ophthalmol doi:
  2. 2.
    Finsterer J, Zarrouk-Mahjoub S (2017) Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders. Neuropsychiatr Dis Treat 13:2569–2579CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Anbar M, Ammar H, Mahmoud RA. (2016) Corneal endothelial morphology in children with type 1 diabetes. J Diabetes Res 2016:7319047. doi:
  4. 4.
    Rummelt V, Folberg R, Ionasescu V et al (1993) Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. Ophthalmology 100:1757–1766CrossRefPubMedGoogle Scholar
  5. 5.
    Poulton J, Finsterer J, Yu-Wai-Man P (2017) Genetic counselling for maternally inherited mitochondrial disorders. Mol Diagn Ther 21:419–429CrossRefPubMedGoogle Scholar
  6. 6.
    Finsterer J, Bindu PS (2015) Therapeutic strategies for mitochondrial disorders. Pediatr Neurol 52:302–313CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Krankenanstalt RudolfstiftungViennaAustria
  2. 2.University of Tunis El Manar and Genomics Platform, Pasteur Institute of TunisTunisTunisia

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