ArticleInvestigative ophthalmology & visual science2013
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
Article in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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31 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations.BMC ophthalmology · 2026Pooled it
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- Retinal Sensitivity in KCNV2-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- Novel and Previously Known Mutations of theJournal of clinical medicine · 2024Article
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging.Life (Basel, Switzerland) · 2023Article
- Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes.Diagnostics (Basel, Switzerland) · 2023Article
- Differential impact of Kv8.2 loss on rod and cone signaling and degeneration.Human molecular genetics · 2022Article
- KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.American journal of ophthalmology · 2021Article
- Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.Molecular genetics & genomic medicine · 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
- Pseudodominance in two families withAmerican journal of ophthalmology case reports · 2020Article
- Review
- Cellular imaging of inherited retinal diseases using adaptive optics.Eye (London, England) · 2019Review
- 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
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
purposeTo report phenotypic characteristics including macular cone photoreceptor morphology in KCNV2-related "cone dystrophy with supernormal rod electroretinogram" (CDSR).
methodsSeven patients, aged 9 to 18 years at last visit, with characteristic full-field electroretinographic (ERG) features of CDSR were screened for mutations in the KCNV2 gene. All patients underwent detailed ophthalmological evaluation, which included distance and color vision testing, contrast sensitivity measurement, fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain-optical coherence tomography (SD-OCT). Follow-up visits were available in six cases. Rod photoreceptor function was assessed using a bright white flash ERG protocol (240 cd·s/m(2)). Macular cone photoreceptor morphology was assessed from 2° by 2° zonal images obtained using adaptive optics scanning laser ophthalmoscopy (AOSLO) in six cases.
resultsPathogenic mutations in KCNV2 were identified in all seven cases. Best corrected vision was 20/125 or worse in all cases at the latest visit (20/125-20/400). Vision loss was progressive in two cases. Color vision and contrast sensitivity was abnormal in all cases. Retinal exam revealed minimal pigment epithelial changes at the fovea in four cases. A peri- or parafoveal ring of hyperfluorescence was the most common FAF abnormality noted (five cases). The SD-OCT showed outer retinal abnormalities in all cases. The rod photoreceptor maximal response was reduced but rod sensitivity was normal. AOSLO showed markedly reduced cone density in all six patients tested.
conclusionsCentral vision parameters progressively worsen in CDSR. Structural retinal and lipofuscin accumulation abnormalities are commonly present. Macular cone photoreceptor mosaic is markedly disrupted early in the disease.
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