ArticleDocumenta ophthalmologica. Advances in ophthalmology2015
Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Development of a deep learning model to distinguish the cause of optic disc atrophy using retinal fundus photography.Scientific reports · 2024Article
- Analysis of the slope between P50 and N95 waves of the large field pattern electroretinogram as an additional indicator of ganglion cell dysfunction.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy.Journal of clinical medicine · 2022Article
- Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.Frontiers in neurology · 2022Article
- Clinical electrophysiology of the optic nerve and retinal ganglion cells.Eye (London, England) · 2021Review
- What can visual electrophysiology tell about possible visual-field defects in paediatric patients.Eye (London, England) · 2021Review
- Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.Advances in therapy · 2021Observational
- Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2020Article
- Widespread Reductions of Spontaneous Neurophysiological Activity in Leber's Disease-An Application of EEG Source Current Density Reconstruction.Brain sciences · 2020Article
- The Utility of Fundus Fluorescein Angiography in Neuro-Ophthalmology.Neuro-ophthalmology (Aeolus Press) · 2019Review
- Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNAThe British journal of ophthalmology · 2017Article
- The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.Mitochondrion · 2017Article
- A Meta-analysis of the association between different genotypes (International journal of ophthalmology · 2016Article
- Normative values of visual evoked potentials in Northeastern of Iran.Journal of optometryArticle
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo report clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy (LHON).
methodsEight patients with LHON (11-26 years; one female and seven males) were examined in acute stages and at follow-up visits by means of Snellen visual acuity, Ishihara color vision, Goldmann or Octopus G2TOP perimetry, fluorescein angiography (FAG), pattern electroretinogram (PERG), visual evoked potentials (VEP) and genetic testing.
resultsPatients presented with typical LHON phenotype with bilateral visual acuity loss, abnormal color vision, central scotoma and hyperemic discs with no leakage on FAG. In the acute stage, electrophysiology was performed in 7/8 patients. The PERG P50 component was normal in 14/14 eyes, while the N95 component was reduced in 7/14 eyes. VEP wave P100 was reduced and delayed in 14/14 eyes. In this stage, temporal pallor of the optic disc was visible in 4/7 eyes with reduced PERG N95. At follow-up (1-11 months after), a reduced PERG N95 component was seen in 13/14 eyes and severely affected VEP in all eyes. In the only eye with a normal PERG N95, hyperemic optic disc was seen 5 months after visual acuity loss, while it was atrophic in all the others. Known mutations (14484T>C, 3460G>A) were found in 2/8 patients, while in others high-throughput sequencing identified new potentially pathogenic mutations.
conclusionsIn Leber hereditary optic neuropathy, a reduced N95 component of PERG and severely reduced VEP P100 may be present already in the acute stage of disease, before optic disc pallor appears, suggesting primary dysfunction of retinal ganglion cells.
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