ArticleAmerican journal of ophthalmology2018
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
Article in American journal of ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Atypical retinitis pigmentosa associated withAmerican journal of ophthalmology case reports · 2026Article
- Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Scientific reports · 2026Article
- Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.Translational vision science & technology · 2025Article
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- Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.JCI insight · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.Ophthalmology. Retina · 2023Article
- Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.Human genomics · 2023Article
- Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.Diagnostics (Basel, Switzerland) · 2023Article
- Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.Scientific reports · 2022Article
- Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.Translational vision science & technology · 2022Observational
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- EYS-Associated Sector Retinitis Pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Orphanet journal of rare diseases · 2021Review
- Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Bioscience reports · 2020Article
- Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.Scientific reports · 2020Article
- Whole exome sequencing reveals novelMolecular vision · 2019Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
purposeMutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multimodal retinal imaging to elucidate genotype-phenotype correlations in EYS-related RP (EYS-RP).
designCross-sectional study.
methodsMultimodal retinal imaging and electrophysiologic testing were assessed for 16 patients with genetic confirmation of EYS-RP.
resultsA total of 27 unique EYS variants were identified in 16 patients. Seven patients presented with an unusual crescent-shaped hyperautofluorescent (hyperAF) ring on fundus autofluorescence (FAF) imaging encompassing a large nasal-superior area of the posterior pole. Three patients had a typical circular or oval perifoveal hyperAF ring and 6 patients had no hyperAF ring. Spectral-domain (SD) and en face optical coherence tomography (OCT) showed preserved ellipsoid zone and retinal thickness spatially corresponding to areas within the hyperAF rings. Eleven patients presented with a rod-cone dystrophy on full-field electroretinogram (ffERG), 1 patient presented with cone-rod dystrophy, and 4 patients did not undergo ffERG testing. A significant spatial association was found between EYS variant position and FAF phenotype, with variants occurring at a nucleotide position greater than GRCh37 6:65300137 (c.5617C) being more associated with patients exhibiting hyperAF rings at presentation.
conclusionsEYS-RP is a heterogeneous manifestation. Variants occurring in positions closer to the C-terminus of EYS are more common in patients presenting with hyperAF rings on FAF imaging.
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