Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation.
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.
Jules-Gonin Eye Hospital, Avenue de France 15, Lausanne 1004, Switzerland. eamon.sharkawi@fa2.ch
Eamon
E
Sharkawi
Justyna D
JD
Oleszczuk
Graham E
GE
Holder
Joyti
J
Raina
D001766:Blindness / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000503:physiopathology*; D010775:Photic Stimulation; D017354:Point Mutation; D020127:Recovery of Function / Q000502:physiology*; D012160:Retina / Q000503:physiopathology*; D014792:Visual Acuity / Q000502:physiology*; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
D004272:DNA, Mitochondrial