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

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.

Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber’s Hereditary Optic Neuropathy during One Year of Follow-up

“…Similar PERG abnormalities, detected in our patients with LHON with 3460/ND1 mutation, were observed by others. 11,12,18,20,21 For the 14484/ND6 mutation, PERG abnormalities found in our present and previous study 12 are in agreement with those observed by others. 20,21 For the PERG abnormalities detected in patients with LHON with 14568/ND6 mutation, the present study represents a original finding because patients with LHON carrying this mutation have not been studied using an electrophysiologic approach.…”

“…The VEP abnormalities found in our patients with LHON with 3460/ND1 mutation are consistent with those previously observed in our study 12 and in other studies. 18,20,21 In addition, LHON eyes with 14484/ND6 mutation showed abnormal VEP responses similar to that observed in our previous study 12 and that reported by Jarc-Vidmar et al 20 and Majander et al 21 Eyes with LHON with 14568/ND6 were never studied by electrophysiologic methods, and therefore the detected VEP abnormalities represent an original finding.…”

“…In LHON-3460, a worsening of 15ʹ PERG amplitude in 2 of 4 eyes and of 60ʹ PERG amplitude in 1 of 4 eyes was found; no PERG improvement was detected. This is in contrast with Sharkawi et al, 18 who reported PERG improvement in only 1 case in which PERG was recorded by using similar visual stimuli. For the 14484/ ND6 mutation, we observed PERG improvement in 1 of 13 eyes (7.69%) in contrast to Jarc-Vidmar et al, 20 who reported no PERG changes in the only patient enrolled with this mutation after 30 months of follow-up.…”

“…In fact, functional changes have been evaluated by electrophysiologic methods only in few works, reporting isolated cases or in subsets of single mtDNA mutation. [18][19][20][21][22] Therefore, the aim of the present study was to assess, in a large cohort of patients with LHON carrying different mtDNA mutations, possible functional changes in RGCs and their fibers (by PERG recordings) and in visual pathways (by VEP recordings) during 12 months of follow-up in the "chronic phase" of the disease.…”

Neuro-Ophthalmology Annual Review

“…65 Sharkawi et al 66 recently reported a case of LHON diagnosed in a 10-year-old boy. The most common LHON mutation in Northern Europe, Australia, and the Far East is the 11778G9A.…”