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Article

Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Feb 2015

Bonilha Vera L, Rayborn Mary E, Bell Brent A, Marino Meghan J, Pauer Gayle J, Beight Craig D, Chiang John, Traboulsi Elias I, Hollyfield Joe G, Hagstrom Stephanie A

Abstract excerpt

To evaluate the retinal histopathology in donor eyes from patients with autosomal recessive retinitis pigmentosa (arRP) caused by EYS mutations. Eyes from a 72-year-old female (donor 1, family 1), a 91-year-old female (donor 2, family 2), and her 97-year-old sister (donor 3, family 2) were evaluated with macroscopic, scanning laser ophthalmoscopy (SLO) and optical coherence tomography (OCT) imaging. Age-similar...

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Source

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Identifiers

PMID: 25491159
DOI: 10.1007/s00417-014-2868-z
PMCID: PMC10846590

Genes

EYS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.PMID 25491159Read ↗

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

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

Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa.Semantic proximity Read ↗

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

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".Semantic proximity Read ↗

Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug.Semantic proximity Read ↗

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

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

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

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

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