ArticleScientific reports2017
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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.
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Who cites it
26 citing papers in PubMed, 32 citations in OpenAlex.
- Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker.JCI insight · 2023Trial
- Natural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association Study.American journal of ophthalmology · 2025Article
- A Comparative Evaluation of the Genetic Variant Spectrum in theInternational journal of molecular sciences · 2024Article
- Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.Scientific reports · 2023Article
- Article
- A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.International journal of molecular sciences · 2023Review
- USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss.Translational vision science & technology · 2023Article
- Article
- Article
- The role of motor proteins in photoreceptor protein transport and visual function.Ophthalmic genetics · 2022Article
- Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Human genetics · 2022Review
- Characteristics of Retinitis Pigmentosa Associated withInternational journal of molecular sciences · 2021Article
- Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- USH2A-retinopathy: From genetics to therapeutics.Experimental eye research · 2020Review
- Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.American journal of ophthalmology · 2020Article
- Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects.Diagnostics (Basel, Switzerland) · 2020Review
- The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.Translational vision science & technology · 2020Article
- Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.Clinical and experimental otorhinolaryngology · 2020Article
- Structural modeling, mutation analysis, andComputational and structural biotechnology journal · 2020Article
- Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
Abstract
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function. There was a tendency for Usher syndrome patients to have a higher distribution of severe mutations, and alleles in this group had a higher odds of containing nonsense or frame-shift mutations. These data suggest that the previously reported severe visual phenotype seen in syndromic USH2A patients could relate to a greater extent of cone dysfunction. Additionally, a genetic threshold may exist where mutation burden relates to visual phenotype and the presence of hearing deficits. The auditory phenotype and allelic hierarchy observed among patients should be considered in prospective studies of disease progression and during enrollment for future clinical trials.
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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.