Cargando…

Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy

Background. Eyes shut homolog (EYS) gene mutations are estimated to affect at least 5% of patients with autosomal recessive retinitis pigmentosa. Since there is no mammalian model of human EYS disease, it is important to investigate its age-related changes and the degree of central retinal impairmen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Placidi, Giorgio, Maltese, Paolo Enrico, Savastano, Maria Cristina, D’Agostino, Elena, Cestrone, Valentina, Bertelli, Matteo, Chiurazzi, Pietro, Maceroni, Martina, Minnella, Angelo Maria, Ziccardi, Lucia, Parisi, Vincenzo, Rizzo, Stanislao, Falsini, Benedetto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000790/ https://www.ncbi.nlm.nih.gov/pubmed/36899994 http://dx.doi.org/10.3390/diagnostics13050850

Ejemplares similares

USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies
por: Falsini, Benedetto, et al.
Publicado: (2021)

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
por: Falsini, Benedetto, et al.
Publicado: (2022)

Combined Intravitreal Dexamethasone Implant and Cataract Surgery in Patients with Diabetic Retinopathy: Effect on Retinal Morphology and Function
por: Minnella, Angelo Maria, et al.
Publicado: (2020)

Ocular Morpho-Functional Evaluation in ATTRv Pre-Symptomatic Carriers: A Case Series
por: Maceroni, Martina, et al.
Publicado: (2023)

Retinal Pigment Epithelial and Outer Retinal Atrophy in Age-Related Macular Degeneration: Correlation with Macular Function
por: Savastano, Maria C., et al.
Publicado: (2020)

Intravitreal Fluocinolone Acetonide for Diabetic Macular Edema: Long-Term Effect and Structure/Function Correlation
por: Minnella, Angelo Maria, et al.
Publicado: (2022)

Choroidal Thickness Changes After Intravitreal Aflibercept Injections in Treatment-Naïve Neovascular AMD
por: Minnella, Angelo Maria, et al.
Publicado: (2022)

Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series
por: Maceroni, Martina, et al.
Publicado: (2023)

Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report
por: Minnella, Angelo Maria, et al.
Publicado: (2018)

Retinal Morpho-Functional Changes Following 0.19 mg Fluocinolone Acetonide Intravitreal Implant for Chronic Diabetic Macular Edema
por: Minnella, Angelo Maria, et al.
Publicado: (2021)

Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers
por: Minnella, Angelo Maria, et al.
Publicado: (2021)

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden
por: Westin, Ida Maria, et al.
Publicado: (2021)

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease
por: Abed, Edoardo, et al.
Publicado: (2017)

Ocular Involvement in Hereditary Amyloidosis
por: Minnella, Angelo Maria, et al.
Publicado: (2021)

Possible Retinal Impairment Secondary to Ritonavir Use in SARS-CoV-2 Patients: A Narrative Systematic Review
por: Cozzupoli, Grazia Maria, et al.
Publicado: (2020)

3D Da Vinci robotic surgery: is it a risk to the surgeon’s eye health?
por: Molle, Fernando, et al.
Publicado: (2023)

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa
por: Lo, Jui-En, et al.
Publicado: (2022)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

Subretinal Pigment Epithelium Illumination Combined With Focal Electroretinogram and Visual Acuity for Early Diagnosis and Prognosis of Non-Exudative Age-Related Macular Degeneration: New Insights for Personalized Medicine
por: Savastano, Maria Cristina, et al.
Publicado: (2022)

Visual Cortical Plasticity in Retinitis Pigmentosa
por: Lunghi, Claudia, et al.
Publicado: (2019)

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations
por: Sun, Yan, et al.
Publicado: (2020)

Artificial Intelligence and OCT Angiography in Full Thickness Macular Hole. New Developments for Personalized Medicine
por: Rizzo, Stanislao, et al.
Publicado: (2021)

Correction: Rizzo et al. Artificial Intelligence and OCT Angiography in Full Thickness Macular Hole. New Developments for Personalized Medicine. Diagnostics 2021, 11, 2319
por: Rizzo, Stanislao, et al.
Publicado: (2022)

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
por: Arai, Yuuki, et al.
Publicado: (2015)

Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
por: Suvannaboon, Ragkit, et al.
Publicado: (2022)

Retinal capillary involvement in early post-COVID-19 patients: a healthy controlled study
por: Savastano, Maria Cristina, et al.
Publicado: (2021)

Successful long-term management of choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: a case report
por: Savastano, Maria Cristina, et al.
Publicado: (2014)

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population
por: Di, Yanan, et al.
Publicado: (2016)

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa
por: Xiao, Xiaoqiang, et al.
Publicado: (2019)

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
por: McGuigan, David B., et al.
Publicado: (2017)

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
por: Nishiguchi, Koji M., et al.
Publicado: (2021)

Choriocapillaris Vascular Density Changes: Healthy vs. Advanced Exudative Age-Related Macular Degeneration Previously Treated with Multiple Anti-VEGF Intravitreal Injections
por: Savastano, Maria Cristina, et al.
Publicado: (2021)

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population
por: Hosono, Katsuhiro, et al.
Publicado: (2012)

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
por: Huang, Yukan, et al.
Publicado: (2010)

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa
por: Chen, Xue, et al.
Publicado: (2015)

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
por: Numa, Shogo, et al.
Publicado: (2020)

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals
por: Maltese, Paolo Enrico, et al.
Publicado: (2022)

Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells
por: Marino, Valerio, et al.
Publicado: (2021)

Macular Function in Early and Intermediate Age-related Macular Degeneration: Correlation with the Simplified Thea Risk Assessment Scale (STARS)
por: Minnella, Angelo Maria, et al.
Publicado: (2020)

Dietary supplements in retinal diseases, glaucoma, and other ocular conditions
por: MEDORI, MARIA CHIARA, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_rm5kjmn0fspg9fmla9b2edds01