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Article

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

12 Jul 2017

Abstract excerpt

Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face...

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PMID: 28704921
DOI: 10.3390/genes8070178

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease ProgressionPMID 28704921Read ↗

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

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

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.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 ↗

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

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Semantic proximity Read ↗

Extending the Spectrum of EYS-Associated Retinal Disease to Macular DystrophySemantic proximity Read ↗

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

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive 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 ↗

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