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Open AccessElectrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology
This article describes the main visual electrodiagnostic tests relevant to neuro-ophthalmology practice, including the visual evoked potential (VEP), and the full-field, pattern and multifocal electroretinogra...
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Open AccessMitochondria and the eye—manifestations of mitochondrial diseases and their management
Historically, distinct mitochondrial syndromes were recognised clinically by their ocular features. Due to their predilection for metabolically active tissue, mitochondrial diseases frequently involve the eye,...
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Article
Open AccessIndirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation
Lenadogene nolparvovec is a promising novel gene therapy for patients with Leber hereditary optic neuropathy (LHON) carrying the m.11778G>A ND4 mutation (MT-ND4). A previous pooled analysis of phase 3 studies sho...
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Article
Open AccessBiallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome seque...
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Open AccessRe-evaluating diabetic papillopathy using optical coherence tomography and inner retinal sublayer analysis
To re-evaluate diabetic papillopathy using optical coherence tomography (OCT) for quantitative analysis of the peripapillary retinal nerve fibre layer (pRNFL), macular ganglion cell layer (mGCL) and inner nucl...
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Article
Open AccessNatural history of patients with Leber hereditary optic neuropathy—results from the REALITY study
REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).
