ArticleProceedings of the National Academy of Sciences of the United States of America2022
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Association Between Polymorphisms of 4 Common Genes and High Myopia Risk: A Comprehensive Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2026Pooled it
- Dynamic transcriptomic remodeling in grafted human neural progenitor cells uncovers mechanisms for vision preservation in a rat model of retinitis pigmentosa.Nature communications · 2026Article
- Short-Term Changes in Retinal Activity With Four Myopia Control Spectacle Lenses.Translational vision science & technology · 2026Article
- Optically Induced Peripheral Contrast Reduction Restores ON/OFF Pathway Balance in Myopic Eyes.Ophthalmology science · 2026Article
- Cellular Biological Basis and Novel Breakthroughs in the Pathogenesis of Myopia - A Narrative Review.International journal of general medicine · 2026Review
- Increased sensitivity to myopia and altered retinal ON/OFF balance in a mouse model lackingbioRxiv : the preprint server for biology · 2025Article
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- Early retinal electrophysiology changes in quinine overdose.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy.Investigative ophthalmology & visual science · 2025Article
- Selective Impairment of Rod-Driven Vision in Vitamin A Deficiency: Insights From Examining the Effect of Desensitizing Backgrounds.Investigative ophthalmology & visual science · 2025Article
- Measuring differences in the ERG in myopia using the RETeval device with skin electrodes.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2025Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia inJournal of ophthalmology · 2025Article
- Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment.Investigative ophthalmology & visual science · 2024Article
- The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism.Investigative ophthalmology & visual science · 2024Article
- Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.Ophthalmology. Retina · 2024Article
- Human Electroretinography Shows Little Polarity Specificity Following Full-Field Ramp Adaptation.Investigative ophthalmology & visual science · 2024Article
- Pupillary Light Reflex Reveals Melanopsin System Alteration in the Background of Myopia-26, the Female Limited Form of Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Early Alterations in Inner-Retina Neural and Glial Saturated Responses in Lens-Induced Myopia.Translational vision science & technology · 2024Article
- Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
Myopia is the commonest visual impairment. Several genetic loci confer risk, but mechanisms by which they do this are unknown. Retinal signals drive eye growth, and myopia usually results from an excessively long eye. The common variant most strongly associated with myopia is near the GJD2 gene, encoding connexin-36, which forms retinal gap junctions. Light-evoked responses of retinal neurons can be recorded noninvasively as the electroretinogram (ERG). We analyzed these responses from 186 adult twin volunteers who had been genotyped at this locus. Participants underwent detailed ERG recordings incorporating international standard stimuli as well as experimental protocols aiming to separate dark-adapted rod- and cone-driven responses. A mixed linear model was used to explore association between allelic dosage at the locus and international standard ERG parameters after adjustment for age, sex, and family structure. Significant associations were found for parameters of light-adapted, but not dark-adapted, responses. Further investigation of isolated rod- and cone-driven ERGs confirmed associations with cone-driven, but not rod-driven, a-wave amplitudes. Comparison with responses to similar experimental stimuli from a patient with a prior central retinal artery occlusion, and from two patients with selective loss of ON-bipolar cell signals, was consistent with the associated parameters being derived from signals from cone-driven OFF-bipolar cells. Analysis of single-cell transcriptome data revealed strongest GJD2 expression in cone photoreceptors; bipolar cell expression appeared strongest in OFF-bipolar cells and weakest in rod-driven ON-bipolar cells. Our findings support a potential role for altered signaling in cone-driven OFF pathways in myopia development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.