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Article

Multimodal imaging in retinitis pigmentosa related to the EYS gene.

Arquivos brasileiros de oftalmologia - 1 Jan 2024

Martins Ester Abigail da Silva, Rodrigues Gabriela Doná, Ivama Kendy Junior, Pereira Mariana Costa, Texeira Caio Henrique Marques, Amaral Rebeca Azevedo Souza, Sallum Juliana Maria Ferraz

Abstract excerpt

PURPOSE: This study aimed to characterize retinitis pigmentosa associated with the eyes shut homolog gene, which causes hereditary retinal degeneration. METHODS: The anatomical and functional findings of retinitis pigmentosa in patients with variants of the eyes shut homolog gene were characterized and compared using multimodal imaging and genetic analysis of the variants. Clinical data such as visual acuity,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39607159
DOI: 10.5935/0004-2749.2024-0104
PMCID: PMC12997627

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multimodal imaging in retinitis pigmentosa related to the EYS gene.PMID 39607159Read ↗

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 ↗

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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 ↗

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

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

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

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

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

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

Phenotypic Distinctions Between EYS - and USH2A -Associated Retinitis Pigmentosa in an Asian PopulationSemantic proximity Read ↗

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