Documenta Ophthalmologica

, Volume 125, Issue 1, pp 71–74

Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation

  • Eamon Sharkawi
  • Justyna D. Oleszczuk
  • Graham E. Holder
  • Joyti Raina
Clinical Case Report

DOI: 10.1007/s10633-012-9328-z

Cite this article as:
Sharkawi, E., Oleszczuk, J.D., Holder, G.E. et al. Doc Ophthalmol (2012) 125: 71. doi:10.1007/s10633-012-9328-z

Abstract

To report a case of clinical and electrophysiological recovery in Leber hereditary optic neuropathy (LHON) with G3460A Mutation. A 10-year-old boy with a three-month history of painless bilateral sequential visual loss upon presentation underwent visual acuity (diminished), anterior and posterior segment examination (normal), fluorescein angiography (normal), Goldman kinetic perimetry (bilateral central scotomata), genetic (a point G3460A mutation) and electrophysiological investigation (undetectable pattern visual evoked potentials (VEP); low amplitude, broadened and reduced flash VEPs and loss of the N95 component in the pattern electroretinograms). Diagnosis of LHON was made. Eighteen months later vision and electrophysiological tests results began spontaneously improving. Kinetic perimetry revealed reduced density and size of scotomata. Two years later, there had been further electrophysiological improvement. This report describes both clinical and electrophysiological improvement in LHON with G3460A mutation.

Keywords

Leber hereditary optic neuropathy LHON Electrophysiology VEP G3460A Recovery 

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Eamon Sharkawi
    • 1
  • Justyna D. Oleszczuk
    • 1
  • Graham E. Holder
    • 2
    • 3
  • Joyti Raina
    • 4
  1. 1.Jules-Gonin Eye HospitalLausanneSwitzerland
  2. 2.Department of ElectrophysiologyMoorfields Eye HospitalLondonUK
  3. 3.Institute of OphthalmologyUniversity College LondonLondonUK
  4. 4.Department of OphthalmologyNorth Middlesex University HospitalLondonUK

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