ArticleDocumenta ophthalmologica. Advances in ophthalmology2012
Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects.NeuroImage. Clinical · 2022Review
- Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.Advances in therapy · 2021Observational
- The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.Frontiers in neuroscience · 2018Article
- Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Indian journal of ophthalmology · 2017Review
- The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.Mitochondrion · 2017Article
- Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2015Article
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Authors and funding
4 authors.
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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.
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