Cargando…

Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial

PURPOSE: The goal of this analysis was to determine the test–retest variability of functional and structural measures from a cohort of patients with advanced forms of Stargardt Disease (STGD) participating in the SAR422459 (NCT01367444) gene therapy clinical trial. METHODS: Twenty-two participants,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Parker, Maria A., Choi, Dongseok, Erker, Laura R., Pennesi, Mark E., Yang, Paul, Chegarnov, Elvira N., Steinkamp, Peter N., Schlechter, Catherine L., Dhaenens, Claire-Marie, Mohand-Said, Saddek, Audo, Isabelle, Sahel, Jose, Weleber, Richard G., Wilson, David J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2016
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054761/ https://www.ncbi.nlm.nih.gov/pubmed/27730010 http://dx.doi.org/10.1167/tvst.5.5.10

Ejemplares similares

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease
por: Nassisi, Marco, et al.
Publicado: (2019)

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
por: Nassisi, Marco, et al.
Publicado: (2018)

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia
por: Matet, Alexandre, et al.
Publicado: (2018)

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8
por: Fujinami, Kaoru, et al.
Publicado: (2019)

Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study
por: Vignal-Clermont, Catherine, et al.
Publicado: (2021)

Novel grading system for quantification of cystic macular lesions in Usher syndrome
por: Sliesoraityte, Ieva, et al.
Publicado: (2015)

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
por: Audo, Isabelle, et al.
Publicado: (2010)

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
por: Nassisi, Marco, et al.
Publicado: (2021)

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
por: Audo, Isabelle, et al.
Publicado: (2011)

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy
por: El Shamieh, Said, et al.
Publicado: (2015)

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
por: Fakin, Ana, et al.
Publicado: (2021)

Argus II retinal prosthesis implantation with scleral flap and autogenous temporalis fascia as alternative patch graft material: a 4-year follow-up
por: Matet, Alexandre, et al.
Publicado: (2016)

Odysight: A Mobile Medical Application Designed for Remote Monitoring—A Prospective Study Comparison with Standard Clinical Eye Tests
por: Brucker, Julie, et al.
Publicado: (2019)

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
por: Boulanger-Scemama, Elise, et al.
Publicado: (2019)

Transplantation of Photoreceptor and Total Neural Retina Preserves Cone Function in P23H Rhodopsin Transgenic Rat
por: Yang, Ying, et al.
Publicado: (2010)

℮-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa
por: Clérin, Emmanuelle, et al.
Publicado: (2011)

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease
por: Nassisi, Marco, et al.
Publicado: (2022)

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
por: Boulanger-Scemama, Elise, et al.
Publicado: (2015)

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
por: Audo, Isabelle, et al.
Publicado: (2012)

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort
por: Smirnov, Vasily M., et al.
Publicado: (2022)

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
por: Smirnov, Vasily, et al.
Publicado: (2021)

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
por: Shurygina, Maria F., et al.
Publicado: (2019)

Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease
por: Tanna, Preena, et al.
Publicado: (2018)

The development of white matter structural changes during the process of deterioration of the visual field
por: Hofstetter, Shir, et al.
Publicado: (2019)

Author Correction: The development of white matter structural changes during the process of deterioration of the visual field
por: Hofstetter, Shir, et al.
Publicado: (2021)

Reorganization of early visual cortex functional connectivity following selective peripheral and central visual loss
por: Sabbah, Norman, et al.
Publicado: (2017)

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
por: Méjécase, Cécile, et al.
Publicado: (2016)

Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision
por: Sahel, José-Alain, et al.
Publicado: (2021)

Reading Visual Braille with a Retinal Prosthesis
por: Lauritzen, Thomas Z., et al.
Publicado: (2012)

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
por: Braun, Terry A., et al.
Publicado: (2013)

The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients
por: Dhooge, Patty P.A., et al.
Publicado: (2022)

Familial discordance in Stargardt disease
por: Burke, Tomas R., et al.
Publicado: (2012)

Therapy Approaches for Stargardt Disease
por: Piotter, Elena, et al.
Publicado: (2021)

Choroidal Caverns in Stargardt Disease
por: Mucciolo, Dario Pasquale, et al.
Publicado: (2022)

Late-onset Stargardt disease
por: Alsberge, Joseph B., et al.
Publicado: (2022)

The Role of the Choroid in Stargardt Disease
por: Abdolrahimzadeh, Solmaz, et al.
Publicado: (2022)

Reading strategies in Stargardt's disease with foveal sparing
por: Goldschmidt, Mira, et al.
Publicado: (2010)

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report
por: Augstburger, Edouard, et al.
Publicado: (2020)

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
por: Kaltak, Melita, et al.
Publicado: (2023)

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients
por: Buhler, Virginie M.M., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_91oo6a793elc0f1ujjn9eek99e