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

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

Ophthalmology. Retina - 1 Jul 2023

Soares Ricardo Machado, Carvalho Ana Luísa, Simão Sílvia, Soares Célia Azevedo, Raimundo Miguel, Alves C Henrique, Ambrósio António Francisco, Murta Joaquim, Saraiva Jorge, Silva Rufino, Marques João Pedro

Abstract excerpt

PURPOSE: To describe the natural history, genetic landscape, and phenotypic spectrum of Eyes shut homolog (EYS)-associated retinal degeneration (EYS-RD). DESIGN: Retrospective, single-center cohort study complemented by a cross-sectional examination. SUBJECTS: Patients with biallelic EYS variants were recruited at an inherited RD referral center in Portugal. METHODS: Every patient underwent a cross-sectional...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Mutation

Share to Phenotype

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 36764454
DOI: 10.1016/j.oret.2023.02.001

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

Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.PMID 36764454Read ↗

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

Multimodal imaging in retinitis pigmentosa related to the EYS gene.Semantic proximity Read ↗

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

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

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

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

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease ProgressionSemantic proximity Read ↗

Natural History of Retinitis Pigmentosa Associated With the C.4120c>t Eys VariantSemantic proximity Read ↗

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

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

EYS-Associated Sector Retinitis Pigmentosa.Semantic proximity Read ↗

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.Semantic proximity Read ↗

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