ArticleScientific reports2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.Japanese journal of ophthalmology · 2024Guideline
- Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.Japanese journal of ophthalmology · 2026Article
- Generation of a human-induced pluripotent stem cell line from a retinitis pigmentosa patient carrying biallelic mutations in EYS gene.Human cell · 2026Article
- The mutational and clinical spectrum ofFrontiers in genetics · 2026Article
- Single Nucleotide Polymorphisms, Structural Variants, and Short Tandem Repeats Capture Distinct Signals of Adaptive Divergence in the Atlantic Puffin.Genome biology and evolution · 2025Article
- Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Development of posterior staphyloma in a child with retinitis pigmentosa and high myopia detected by Ultra-widefield Optical Coherence Tomography: A 4-year follow-up.American journal of ophthalmology case reports · 2025Article
- Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.Molecular genetics & genomic medicine · 2024Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Screening copy number variations in 35 unsolved inherited retinal disease families.Human genetics · 2024Article
- Multimodal imaging in retinitis pigmentosa related to the EYS gene.Arquivos brasileiros de oftalmologia · 2024Article
- Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.Frontiers in neuroscience · 2023Article
- Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.Scientific reports · 2022Article
- Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.Eye (London, England) · 2022Article
- Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug.Stem cell research & therapy · 2022Article
- EYS-Associated Sector Retinitis Pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.International journal of molecular sciences · 2021Review
- Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.The British journal of ophthalmology · 2021Article
- Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.BMC medical genomics · 2021Article
- Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.Frontiers in cell and developmental biology · 2021Article
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28 authors at 20 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biallelic variants in the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), with a high prevalence in the Asian population. The purpose of this study was to identify pathogenic EYS variants, to determine the clinical/genetic spectrum of EYS-associated retinal disease (EYS-RD), and to discover disease-associated variants with relatively high allele frequency (1%-10%) in a nationwide Japanese cohort. Sixty-six affected subjects from 61 families with biallelic or multiple pathogenic/disease-associated EYS variants were ascertained by whole-exome sequencing. Three phenotype groups were identified in EYS-RD: retinitis pigmentosa (RP; 85.94%), cone-rod dystrophy (CORD; 10.94%), and Leber congenital amaurosis (LCA; 3.12%). Twenty-six pathogenic/disease-associated EYS variants were identified, including seven novel variants. The two most prevalent variants, p.(Gly843Glu) and p.(Thr2465Ser) were found in 26 and twelve families (42.6%, 19.7%), respectively, for which the allele frequency (AF) in the Japanese population was 2.2% and 3.0%, respectively. These results expand the phenotypic and genotypic spectrum of EYS-RD, accounting for a high proportion of EYS-RD both in autosomal recessive RP (23.4%) and autosomal recessive CORD (9.9%) in the Japanese population. The presence of EYS variants with relatively high AF highlights the importance of considering the pathogenicity of non-rare variants in relatively prevalent Mendelian disorders.
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