ArticleThe Journal of physiology2011
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
Article in The Journal of physiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 81 citations in OpenAlex.
- Technical note: a functional data analysis approach to analyze the light-adapted electroretinogram in children and adolescents.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Improving Parkinson's disease diagnosis by non-invasive detection of retinal biomarkers in MPTP monkeys using ERG and pupillometry.NPJ Parkinson's disease · 2026Article
- The luminance-response function of the photopic negative response (PhNR): analysing different stimulation, recording and measurement approaches.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.Molecular genetics & genomic medicine · 2026Article
- Müller cell markers in aqueous humor of patients with type-2 macular telangiectasia.Indian journal of ophthalmology · 2026Article
- Technical note: contour plot visualization of the light adapted electroretinogram using a generalized additive model.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Time Series Classification of Autism Spectrum Disorder Using the Light-Adapted Electroretinogram.Bioengineering (Basel, Switzerland) · 2025Article
- Remodeling the light-adapted electroretinogram using a bayesian statistical approach.BMC research notes · 2025Article
- Spectral Analysis of Light-Adapted Electroretinograms in Neurodevelopmental Disorders: Classification with Machine Learning.Bioengineering (Basel, Switzerland) · 2024Article
- Growth Hormone Neuroprotective Effects After an Optic Nerve Crush in the Male Rat.Investigative ophthalmology & visual science · 2024Article
- Early Alterations in Inner-Retina Neural and Glial Saturated Responses in Lens-Induced Myopia.Translational vision science & technology · 2024Article
- Retinal glia in myopia: current understanding and future directions.Frontiers in cell and developmental biology · 2024Review
- Topographical Correlation between Structural and Functional Impairment of the Macular Inner Retinal Layers in Multiple Sclerosis Eyes with a History of Optic Neuropathy.Journal of clinical medicine · 2023Article
- OculusGraphy: Signal Analysis of the Electroretinogram in a Rabbit Model of Endophthalmitis Using Discrete and Continuous Wavelet Transforms.Bioengineering (Basel, Switzerland) · 2023Article
- Retinal electrophysiology in central nervous system disorders. A review of human and mouse studies.Frontiers in neuroscience · 2023Review
- Inward rectifier potassium (Kir) channels in the retina: living our vision.American journal of physiology. Cell physiology · 2022Review
- The electroretinogram b-wave amplitude: a differential physiological measure for Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder.Journal of neurodevelopmental disorders · 2022Article
- EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.Frontiers in physiology · 2022Review
- Clinical electrophysiology of the optic nerve and retinal ganglion cells.Eye (London, England) · 2021Review
- The influence of mild cataract on ISCEV standard electroretinogram recorded from mydriatic eyes.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The K+ channel expressed by the KCNJ10 gene (Kir4.1) has previously demonstrated importance in retinal function in animal experiments. Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, ataxia, sensorineural deafness and a renal tubulopathy designated as EAST syndrome. We have studied the impact of KCNJ10 mutations on the human electroretinogram (ERG) in four unrelated patients with EAST syndrome. Corneal ganzfeld ERGs were elicited in response to flash stimuli of strengths of 0.001–10 phot cd s/m2 presented scotopically, and 0.3–10 phot cd s/m2 presented photopically. ERG waveforms from light-adapted retinae of all patients showed reduced amplitudes of the photopic negative response (PhNR) (P < 0.001). The photopic ERGs showed a delay in b-wave time to peak, but the photopic hill, i.e. the relative variation of time to peak and amplitude with luminance flash strength, was preserved. Scotopic ERGs to flash strengths 0.01 to 0.1 phot cd s/m2 showed a delay of up to 20 ms before the onset of the b-wave in two patients compared to controls. Stimulus–response functions were fitted by Michaelis–Menten equations and showed significantly lower retinal sensitivity in two patients than in controls (P < 0.001). Our study for the first time in the human ERG shows changes in association with KCNJ10 mutations affecting a Muller cell K+ channel. These data illustrate the role of KCNJ10 function in the physiology of proximal and possibly also the distal human retina.
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