Clinical Case Report

Documenta Ophthalmologica

, Volume 125, Issue 1, pp 71-74

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

  • Eamon SharkawiAffiliated withJules-Gonin Eye Hospital Email author 
  • , Justyna D. OleszczukAffiliated withJules-Gonin Eye Hospital
  • , Graham E. HolderAffiliated withDepartment of Electrophysiology, Moorfields Eye HospitalInstitute of Ophthalmology, University College London
  • , Joyti RainaAffiliated withDepartment of Ophthalmology, North Middlesex University Hospital

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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.


Leber hereditary optic neuropathy LHON Electrophysiology VEP G3460A Recovery