Observational studyTranslational vision science & technology2022
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Observational study in Translational vision science & technology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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
9 citing papers in PubMed, 8 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
- Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.Investigative ophthalmology & visual science · 2025Article
- Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Glycosaminoglycans, Instructive Biomolecules That Regulate Cellular Activity and Synaptic Neuronal Control of Specific Tissue Functional Properties.International journal of molecular sciences · 2025Review
- Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.Translational vision science & technology · 2025Article
- Deep phenotyping of eyes shut homolog-associated retinopathy based on visual impairment patterns.Frontiers in ophthalmology · 2025Article
- Multimodal imaging in retinitis pigmentosa related to the EYS gene.Arquivos brasileiros de oftalmologia · 2024Article
- Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.Diagnostics (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The purpose of this study was to investigate the genetic and clinical characteristics of eyes shut homolog (EYS)-associated retinitis pigmentosa (RP). Methods: This was a retrospective cross-sectional observational study of 36 patients with EYS-associated autosomal recessive RP (arRP). Results: The gene sequencing results revealed that c.6416G>A (p.Cys2139Tyr) and c.7228+1G>A were the two most predominant variants in our cohort and that variants near the C-terminus, which contains alternating laminin and epidermal growth factor (EGF) domains, accounted for the majority of the allele counts (58 of a total of 72) and relative allele frequencies (81%). Over half of the patients presented with pericentral-type RP (n = 19, 60%), which frequently occurred in combination with macular lesions (n = 10, 52%). Patients having both variants within the alternating laminin and EGF domains near the C-terminus had a more severe disease progression (average 0.045 logMAR increase per year) than those having one variant in the N-terminus and the other in the C-terminus (average 0.001 logMAR increase per year). Conclusions: Pericentral RP was the major phenotype in patients with EYS-associated arRP. There was also a statistically significant relationship between the location of the variants and the severity of the disease. Translational Relevance: This study may aid patients with EYS-associated arRP to predict future vision acuity based on their genetic and clinical features.
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