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

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Serval ID
serval:BIB_CC16CEFFB9EA
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation.
Journal
Documenta Ophthalmologica
Author(s)
Sharkawi E., Oleszczuk J.D., Holder G.E., Raina J.
ISSN
1573-2622 (Electronic)
ISSN-L
0012-4486
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
125
Number
1
Pages
71-74
Language
english
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
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
Blindness/genetics, Blindness/physiopathology, Child, DNA, Mitochondrial/genetics, Electroretinography, Evoked Potentials, Visual/physiology, Fluorescein Angiography, Humans, Male, Mitochondrial Diseases/genetics, Optic Atrophy, Hereditary, Leber/genetics, Optic Atrophy, Hereditary, Leber/physiopathology, Photic Stimulation, Point Mutation, Recovery of Function/physiology, Retina/physiopathology, Visual Acuity/physiology, Visual Field Tests, Visual Fields/physiology
Pubmed
Web of science
Open Access
Yes
Create date
05/11/2012 11:01
Last modification date
01/10/2019 7:19
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