ArticleDocumenta ophthalmologica. Advances in ophthalmology2019
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- The origins of the full-field flash electroretinogram b-wave.Frontiers in molecular neuroscience · 2023Review
- Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.Molecular genetics & genomic medicine · 2021Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated KInternational journal of molecular sciences · 2021Article
- KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.American journal of ophthalmology · 2021Article
- Improvement of reduced electroretinographic responses in thymoma-associated retinopathy: a case report and literature review.Documenta ophthalmologica. Advances in ophthalmology · 2020Review
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.Molecular genetics & genomic medicine · 2020Article
- Review
- RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.Investigative ophthalmology & visual science · 2020Article
- Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients withInternational journal of molecular sciences · 2020Article
- Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.Scientific reports · 2019Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report clinical and genetic features including long-term full-field electroretinography (FF-ERG) findings of a patient with cone dystrophy with supernormal rod responses (CDSRR).
methodsOphthalmological medical records including FF-ERG were retrospectively reviewed. Genetic analysis using whole-exome sequencing (WES) was performed. Identified KCNV2 variants were confirmed by Sanger sequencing.
resultsA 30-year-old female patient was referred to our hospital for assessment of decreased vision from childhood. Funduscopy showed macular atrophy in both eyes. FF-ERG showed decreased amplitudes and delayed peak time of b-waves for dark-adapted (DA) 0.01 ERG, increased b/a-wave ratio with a slightly diminished a-wave for DA 3.0 and DA 25.7 ERG, residual a-waves and almost extinguished b-waves for light-adapted (LA) 3.0 ERG, and extremely diminished amplitudes in LA 30-Hz flicker responses. At 45 years of age, funduscopy showed progressive macular atrophy, whereas the responses for her FF-ERG remained unchanged compared to those observed at 30 years of age. WES identified the compound heterozygous KCNV2 variants (p.W67X and p.D174GfsX198) in the patient. These variants have previously been unreported as pathogenic variants. Each parent had one of the variants. Subsequently, the patient was finally diagnosed with CDSRR with the novel compound heterozygous KCNV2 variants.
conclusionsBiallelic loss-of-function KCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of CDSRR. Long-term FF-ERG findings demonstrated there were no ERG changes during 15 years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy.
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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.