Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.

Scientific reports - 3 Apr 2026

Muto Kensuke, Sajiki Ai Fujita, Goto Kensuke, Kimura Yuki, Ota Junya, Ushida Hiroaki, Yamada Kazuhisa, Nishiguchi Koji M, Kominami Taro

Abstract excerpt

Eyes shut homolog (EYS) is an eye-specific gene that encodes a protein essential for maintaining photoreceptor integrity. The aim of this study was to identify the parameters that characterize the clinical features of EYS-associated retinitis pigmentosa (RP) in patients carrying the c.2528G > A (p.Gly843Glu; G843E) variant. We retrospectively analyzed 127 Japanese patients carrying biallelic pathogenic variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to East Asian People
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Mutation

Share to Phenotype

Share to Retinitis Pigmentosa

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 41933129
DOI: 10.1038/s41598-026-46464-3
PMCID: PMC13194756

Genes

EYS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.PMID 41933129Read ↗

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.Semantic proximity Read ↗

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.Semantic proximity Read ↗

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.Semantic proximity Read ↗

Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.Semantic proximity Read ↗

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.Semantic proximity Read ↗

Clinical Characteristics of<i>EYS</i>-Associated Retinal Dystrophy in 295 Japanese PatientsSemantic proximity Read ↗

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.Semantic proximity Read ↗

Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.Semantic proximity Read ↗

Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.Semantic proximity Read ↗

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Semantic proximity Read ↗

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) geneSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.