ArticleGenes2021
Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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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
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Concomitant Calcium Channelopathies InvolvingGenes · 2023Pooled it
- Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Article
- Human accommodative visuomotor function is driven by contrast through ON and OFF pathways and is enhanced in myopia.Cell reports · 2026Article
- Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing.International journal of ophthalmology · 2026Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Article
- Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.Ophthalmology. Retina · 2024Article
- Clinical and genetic studies for a cohort of patients with congenital stationary night blindness.Orphanet journal of rare diseases · 2024Article
- Contrast Sensitivity of ON and OFF Human Retinal Pathways in Myopia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Enhancing Electroretinogram Classification with Multi-Wavelet Analysis and Visual Transformer.Sensors (Basel, Switzerland) · 2023Article
- The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide.Diagnostics (Basel, Switzerland) · 2023Review
- Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.International journal of molecular sciences · 2023Review
- Optimal Combination of Mother Wavelet and AI Model for Precise Classification of Pediatric Electroretinogram Signals.Sensors (Basel, Switzerland) · 2023Article
- Differences in visual stimulation between reading and walking and implications for myopia development.Journal of vision · 2023Article
- Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.Frontiers in genetics · 2023Article
- Transducin-Deficient Rod Photoreceptors Evaluated With Optical Coherence Tomography and Oxygen Consumption Rate Energy Biomarkers.Investigative ophthalmology & visual science · 2022Article
- Congenital Stationary Night Blindness: Clinical and Genetic Features.International journal of molecular sciences · 2022Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.Genes · 2021Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study, we investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Clinical evaluations, including fundus photography, spectral-domain optical coherence tomography, and electroretinography, were performed. Genetic analyses were conducted using targeted panel sequencing or whole exome sequencing. The median age was 5 (3-21) years at the initial examination, 2 (1-8) years at symptom onset, and 11 (5-28) years during the final visit. Genetic mutations were identified as
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Registered trials
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