ArticleDocumenta ophthalmologica. Advances in ophthalmology2014
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- A Tripartite AAV System with Engineered Lox Sites Enables Efficient Delivery of theHuman gene therapy · 2026Article
- Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.JCI insight · 2024Article
- Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.Diagnostics (Basel, Switzerland) · 2023Article
- Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors.International journal of molecular sciences · 2022Article
- Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Orphanet journal of rare diseases · 2021Review
- EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.Scientific reports · 2021Article
- Zebrafish Models of Photoreceptor Dysfunction and Degeneration.Biomolecules · 2021Review
- Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.Frontiers in cell and developmental biology · 2021Article
- Article
- Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors.Scientific reports · 2020Article
- Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.Scientific reports · 2020Article
- A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.American journal of ophthalmology · 2018Article
- Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.Scientific reports · 2017Article
- Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish.Biology open · 2016Article
- Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Molecular vision · 2016Article
- Article
- The multiple roles of epidermal growth factor repeat O-glycans in animal development.Glycobiology · 2015Review
- Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Orphanet journal of rare diseases · 2015Article
- Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Scientific reports · 2015Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEYS mutations have been identified only in patients with autosomal recessive retinitis pigmentosa (arRP). This study was conducted to describe clinical and genetic features of a Japanese patient with autosomal recessive cone-rod dystrophy (arCRD) and EYS mutations.
methodsWe performed complete ophthalmic examinations including full-field electroretinography (ERG). Genetic analysis using whole-exome sequencing and Sanger sequencing was performed to identify the disease-causing mutation in a 31-year-old male patient.
resultsAt the initial visit, the patient's decimal best-corrected visual acuity (BCVA) was 0.9 and 0.6 in his right and left eyes, respectively. Funduscopy indicated retinal degenerations were predominantly affected within the vascular arcades and preserved retinal vessels in the mid-periphery in both eyes. Visual field testing showed there were relative central scotomas and preserved peripheral visual fields in both eyes. ERG indicated there was a decreased pattern for both the rod and cone responses. At the age of 36 years, his BCVA decreased to 0.2 in both eyes. Optical coherence tomography showed marked retinal thinning of the macular regions in both eyes. Genetic analysis identified compound heterozygous truncating mutations (p.Y2935X and p.S1653KfsX2) in the EYS gene. His unaffected parents were heterozygous for each mutation.
conclusionsOur results demonstrated that EYS mutations can be the cause of not only arRP but also arCRD. Our findings extend the phenotypic spectrum of patients with EYS mutations.
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