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@ARTICLE{Priglinger:141595,
      author       = {Priglinger, Claudia and Klopstock, Thomas and Rudolph,
                      Günter and Priglinger, Siegfried Georg},
      title        = {[{L}eber's {H}ereditary {O}ptic {N}europathy].},
      journal      = {Klinische Monatsblätter für Augenheilkunde},
      volume       = {236},
      number       = {11},
      issn         = {0023-2165},
      address      = {Stuttgart},
      publisher    = {Thieme78968},
      reportid     = {DZNE-2020-07919},
      pages        = {1271-1282},
      year         = {2019},
      abstract     = {Leber's hereditary optic neuropathy (LHON) typically
                      affects young adults with a higher prevalence in men, but
                      can ultimately occur at any age and also in women. LHON is
                      caused by point mutations in the mitochondrial DNA, which
                      lead to a defect in complex I of the mitochondrial
                      respiratory chain. This in turn causes dysfunction and later
                      degeneration of retinal ganglion cells, followed by
                      ascending optic atrophy. Classically, LHON presents as a
                      subacute unilateral loss of visual acuity, dyschromatopsia
                      in the red-green axis and a central or centrocecal scotoma.
                      The partner eye usually develops similar symptoms within
                      3 - 6 months of onset of the disease. In $25\%$ of
                      cases, however, the disease begins bilaterally. In the
                      natural course of the disease, the majority of patients
                      remain with a visual acuity less than 0.1, even though a
                      small proportion may experience a spontaneous improvement in
                      visual acuity. In 2015, the ubiquinone analogue Idebenone
                      was approved by the European Medicines Agency for the
                      treatment of LHON. The decisive factors for therapeutic
                      success are an early start and an appropriate treatment
                      duration. It should also be noted that a proportion of
                      patients may experience a delayed response to therapy.
                      However, a complete recovery of visual acuity is rare even
                      under therapy. Since patients affected by LHON are mostly
                      young adults of working age, who go largely blind more or
                      less acutely, immediate support with magnifying vision aids
                      and advice on social and vocational rehabilitation is
                      essential. Alternative therapeutic approaches such as gene
                      therapy, neuroprotection or stem cell-based aspects are
                      currently the subject of clinical studies and offer hope for
                      further perspectives for those affected. Although with
                      Idebenone a causal therapy has already been approved for
                      LHON, many questions regarding the pathogenesis of the
                      disease have not yet been completely clarified. This
                      particularly concerns gender prevalence and possible
                      additional triggers or protective factors. In this overview,
                      the clinical course of LHON, diagnostics and current therapy
                      recommendations as well as the special features and current
                      explanatory approaches to incomplete penetrance and symptoms
                      of LHON are explained.},
      keywords     = {DNA, Mitochondrial / Female / Genetic Therapy / Humans /
                      Male / Optic Atrophy, Hereditary, Leber: genetics / Optic
                      Atrophy, Hereditary, Leber: therapy / Retinal Ganglion Cells
                      / Visual Acuity / Young Adult / DNA, Mitochondrial (NLM
                      Chemicals)},
      cin          = {Clinical Dementia Research München},
      cid          = {I:(DE-2719)1111016},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31639883},
      doi          = {10.1055/a-0972-1552},
      url          = {https://pub.dzne.de/record/141595},
}