ArticlePloS one2012
Rod and cone function in patients with KCNV2 retinopathy.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Novel and Previously Known Mutations of theJournal of clinical medicine · 2024Article
- Article
- Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.International journal of molecular sciences · 2023Article
- KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.American journal of ophthalmology · 2021Article
- Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.Pflugers Archiv : European journal of physiology · 2021Review
- 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
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- Review
- Voltage- and calcium-gated ion channels of neurons in the vertebrate retina.Progress in retinal and eye research · 2019Review
- Two-color pupillometry in KCNV2 retinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- ISCEV extended protocol for the stimulus-response series for the dark-adapted full-field ERG b-wave.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Heteromeric KThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Cone photoreceptor macular function and recovery after photostress in early non-exudative age-related macular degeneration.Clinical ophthalmology (Auckland, N.Z.) · 2018Article
- Kv5, Kv6, Kv8, and Kv9 subunits: No simple silent bystanders.The Journal of general physiology · 2016Review
- Recurrent episodes of night blindness in a patient with short bowel syndrome.Documenta ophthalmologica. Advances in ophthalmology · 2015Article
- Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.Molecular vision · 2013Article
- Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo investigate rod and cone function and disease mechanisms in patients with KCNV2 retinopathy. METHODOLOGY/PRINCIPAL
findingsPsychophysical examinations as well as detailed electrophysiological examinations with Ganzfeld and multifocal electroretinogram (ERG) were performed to study response dynamics. Additionally, fundus photography, autofluorescence imaging and spectral domain OCTs were carried out for morphological characterization. Molecular genetic analysis revealed compound heterozygosity in five patients and homozygosity for the KCNV2 gene in one patient. The mutations resulted in complete absence of Kv8.2 subunits in three patients (no protein group, NOP), while the other three patients expressed mutant Kv8.2 subunits resulting in altered Kv2.1/Kv8.2 heteromeric or residual Kv2.1 homomeric potassium channel function (altered protein group, ALP). Although more advanced morphological changes were visible in the NOP group, a clear functional difference between the two groups could not be observed. All patients showed characteristic dynamics of the b-wave intensity-response function, however, scotopic b-wave response amplitudes were within normal limits. We also observed severely reduced oscillatory potentials. CONCLUSIONS/SIGNIFICANCE: A specific genotype-phenotype correlation in retinal function could not be demonstrated. KCNV2 mutations cause a unique form of retinal disorder illustrating the importance of K(+)-channels for the resting potential, activation and deactivation of photoreceptors, while phototransduction remains unchanged. The reduced oscillatory potentials further suggest an altered function of the inner retina. Besides the characteristically steep amplitude-versus-intensity relationship, flicker responses at intermediate frequencies (5-15 Hz) are significantly reduced and shifted in phase.
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