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Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy
  1. Cédric Lamirel1,
  2. Julien Cassereau2,3,
  3. Isabelle Cochereau1,
  4. Catherine Vignal-Clermont4,
  5. Olivier Pajot1,
  6. Jean-Yves Tanguy5,
  7. Xavier Zanlonghi6,
  8. Pascal Reynier7,3,
  9. Patrizia Amati-Bonneau7,3,
  10. Frédéric Dubas2,
  11. Dominique Bonneau7,3,
  12. Christophe Verny2
  1. 1Département d'Ophtalmologie, Centre Hospitalier Universitaire, Angers, France
  2. 2Département de Neurologie, Centre Hospitalier Universitaire, Angers, France
  3. 3Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France
  4. 4Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
  5. 5Département de Radiologie, Centre Hospitalier Universitaire, Angers, France
  6. 6Explorations fonctionnelles, Clinique Sourdille, Nantes, France
  7. 7INSERM U694, Angers, France
  1. Correspondence to Dr Cedric Lamirel, Département d'Ophtalmologie, CHU, 4 rue Larrey, F-49033 Angers, France; clamirel{at}hotmail.com

Abstract

The authors report a case of one patient from a family carrying the homoplasmic Leber hereditary optic neuropathy (LHON) G11778A mitochondrial DNA mutation with papilloedema 9 months prior to the acute stage of LHON and still present at the onset of visual loss. During the vision loss, the MRI demonstrated a T2 hyperintensity and an enhancement of the prechiasmal left optic nerve, suggesting the existence of an inflammatory mechanism. A retrospective review of the chart of two others members of the same family, with bilateral optic disc oedema at onset of the vision loss, suggests that the relationship of papilloedema and acute phase of LHON may not be just a coincidence, at least in this family. The visual loss related to LHON could have been triggered in the setting of the chronic papilloedema, associated with the intracranial hypertension.

  • Benign intracran hyp
  • Leber heredit optic
  • MRI
  • neuro-opthalmology

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Footnotes

  • CL & JC contributed equally to this paper.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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