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.
KeywordsLeber hereditary optic neuropathy LHON Electrophysiology VEP G3460A Recovery
Conflict of interests
The authors declare no financial support or conflicts of interests.
- 6.Pagon RA, Bird TD, Dolan CR et al. (1993) GeneReviews™ [online] Chapter: Leber hereditary optic neuropathy. University of Washington, Seattle WA (Last Update: July 7, 2011)Google Scholar
- 7.MITOMAP: A human mitochondrial genome database [online]. http://www.mitomap.org/MITOMAP/MutationsLHON