ArticleInvestigative ophthalmology & visual science2014
Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02161380 (An Open-label Dose Escalation Study of an Adeno-associated Virus Vector), which is not on this map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.BioMed research international · 2023Pooled it
- Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants.BMJ open ophthalmology · 2024Article
- Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia.Journal of clinical medicine · 2023Article
- Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.Ophthalmology and therapy · 2023Article
- Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.International journal of molecular sciences · 2023Article
- Comparison of different gene-therapy methods to treat Leber hereditary optic neuropathy in a mouse model.Frontiers in neuroscience · 2023Article
- Fundus imaging of retinal ganglion cells transduced by retrograde transport of rAAV2-retro.Experimental eye research · 2022Article
- The Relationship Between Stage of Leber's Hereditary Optic Neuropathy and Pattern Electroretinogram Latency.Translational vision science & technology · 2022Article
- Non-invasive Assessment of Central Retinal Artery Pressure: Age and Posture-dependent Changes.Current eye research · 2021Article
- Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>AFrontiers in neurology · 2021Article
- Mitochondrial Transfer of the Mutant HumanTranslational vision science & technology · 2020Article
- Electrophysiological and Structural Changes in Chinese Patients with LHON.Journal of ophthalmology · 2020Article
- Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy.Journal of neurology · 2019Article
- The Optical Coherence Tomographic Profile of Leber Hereditary Optic Neuropathy.Neuro-ophthalmology (Aeolus Press) · 2016Article
- Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results.Ophthalmology · 2016Article
- Brain derived neurotrophic factor keeps pattern electroretinogram from dropping after superior colliculus lesion in mice.International journal of ophthalmology · 2016Article
- Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.The journals of gerontology. Series A, Biological sciences and medical sciences · 2015Article
- Leber hereditary optic neuropathy: current perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2015Review
- Frequency spectrum might act as communication code between retina and visual cortex I.International journal of ophthalmology · 2015Article
- Neuro-ophthalmic manifestations of mitochondrial disorders and their management.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
purposeTo report the serial evaluation of asymptomatic eyes of subjects with mutated G11778A mitochondrial DNA.
methodsForty-five asymptomatic G11778A Leber hereditary optic neuropathy (LHON) carriers and two patients with the mutation who developed unilateral visual loss underwent testing that included visual acuity, automated visual field, pattern electroretinogram (PERG), and spectral-domain optical coherence tomography every 6 months between September 2008 and March 2012.
resultsVisual acuity, visual fields, and retinal nerve fiber layer thickness remained stable within the normal range. Mean PERG amplitudes of carriers dropped progressively by ∼ 40% from baseline to 36 months. In addition, comparisons with the fellow eyes of patients with unilateral optic neuritis revealed a 3.4 ETDRS (Early Treatment Diabetic Retinopathy Study) letter loss in the LHON carriers. A single carrier developed visual loss, with PERG amplitudes dropping by half. In one of two LHON cases who presented with unilateral visual loss, visual acuity in the asymptomatic eye was ∼ 20/40 at baseline. The PERG amplitude of this eye was reduced to ∼ 30% of normal. Six months later, his visual acuity had dropped to ∼ 20/500. A second patient who was ∼ 20/20 and had a visual field defect in the asymptomatic eye at baseline remained at this level for the 18 months of follow-up. His PERG amplitudes were similar to those of asymptomatic carriers, with 0.78 μV at baseline that did not decline with follow-up.
conclusionsDeclines of the PERG amplitude suggest subclinical retinal ganglion cell dysfunction in asymptomatic G11778A subjects, which is progressive.
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