Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

  title={Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies},
  author={P. Yu-Wai-Man and P. Griffiths and P. Chinnery},
  journal={Progress in Retinal and Eye Research},
  pages={81 - 114}
  • P. Yu-Wai-Man, P. Griffiths, P. Chinnery
  • Published 2011
  • Biology, Medicine
  • Progress in Retinal and Eye Research
  • Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are the two most common inherited optic neuropathies in the general population. Both disorders share striking pathological similarities, marked by the selective loss of retinal ganglion cells (RGCs) and the early involvement of the papillomacular bundle. Three mitochondrial DNA (mtDNA) point mutations; m.3460G>A, m.11778G>A, and m.14484T>C account for over 90% of LHON cases, and in DOA, the majority of affected… CONTINUE READING
    384 Citations

    Paper Mentions

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