Disease: Stargardt Disease
- <em>ABCA4</em> c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
- <em>ABCA4</em> variant screening in a Turkish cohort with Stargardt disease
- <em>ABCA4</em>-related retinopathies in Lebanon
- A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report
- A novel lipophenol quercetin derivative to prevent macular degeneration: Intravenous and oral formulations for preclinical pharmacological evaluation
- A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants
- A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease
- A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
- AAV Serotypes and Their Suitability for Retinal Gene Therapy
- ABCA4 variant screening in a Turkish cohort with Stargardt disease
- An adenine base editor variant expands context compatibility
- Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases
- At-Home Trial of Four Different Head-Mounted Displays in Visual Rehabilitation of People with Stargardt Disease
- Automated identification of fleck lesions in Stargardt disease using deep learning enhances lesion detection sensitivity and enables morphometric analysis of flecks
- Cell therapy for retinal degenerative disorders: a systematic review and three-level meta-analysis
- Cell therapy for retinal disease
- Cell-based Therapies for Corneal and Retinal Disorders
- Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes
- Clinical classification of Stargardt disease
- Clinical profile and demographic distribution of Stargardt disease phenotypes: An Electronic medical record-driven big data analytics from a multitier eye care network
- Clinical, Genotypic and Imaging Characterization of the spectrum of ABCA4 Retinopathies
- Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations
- Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort
- Correction to: Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253 + 43G>A Underlying Stargardt Disease, by Nuria Suarez-Herrera et al., Nucleic Acid Ther 2024;34(2):73-82; doi: 10.1089/nat.2023.0076
- Deep Density Estimation for Cone Counting and Diagnosis of Genetic Eye Diseases From Adaptive Optics Scanning Light Ophthalmoscope Images
- Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data
- Diagnostic Challenges in <em>ABCA4</em>-Associated Retinal Degeneration: One Gene, Many Phenotypes
- Discovery of Nonretinoid Inhibitors of CRBP1: Structural and Dynamic Insights for Ligand-Binding Mechanisms
- Distinct mouse models of Stargardt disease display differences in pharmacological targeting of ceramides and inflammatory responses
- Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations
- Expanding the phenotype of <em>THRB</em>: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant
- Fundus autofluorescence imaging using red excitation light
- Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
- Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants
- Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease
- Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C>T) using non-integrative Sendai virus-based approach
- Genotype-Phenotype Association in ABCA4-Associated Retinopathy
- Inflammatory bowel disease (IBD) patients with impaired quality of life on biologic therapy benefit from the support of an IBD nurse specialist: Results of a randomised controlled trial in Germany (IBD(BIO-ASSIST) study)
- Inner retinal thickness in Stargardt disease
- Intravitreal Delivery of PEGylated-ECO Plasmid DNA Nanoparticles for Gene Therapy of Stargardt Disease
- Jumping the Queue:Willingness to Pay for Faster Access to COVID-19 Vaccines in Seven European Countries
- LipidUNet-Machine Learning-Based Method of Characterization and Quantification of Lipid Deposits Using iPSC-Derived Retinal Pigment Epithelium
- Local progression kinetics of macular atrophy in recessive Stargardt disease
- Longitudinal Adaptive Optics Scanning Laser Ophthalmoscopy Reveals Regional Variation in Cone and Rod Photoreceptor Loss in Stargardt Disease
- Loss of Prom1 impairs autophagy and promotes epithelial-mesenchymal transition in mouse retinal pigment epithelial cells
- Macular neovascularisation in inherited retinal diseases: A review
- Macular neovascularization in inherited retinal diseases: A review
- Macular Pigment Carotenoids and Bisretinoid A2E
- Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in <em>ABCA4</em>-Related Retinal Dystrophy in an Eastern European Population
- Mapping from SIBDQ to EQ-5D-5L for patients with inflammatory bowel disease
- Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites
- mRNA trans-splicing dual AAV vectors for (epi)genome editing and gene therapy
- Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration
- Nationwide epidemiologic survey on incidence of macular dystrophy in Japan
- Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
- Novel Approaches for Elongation of Fish Oils into Very-Long-Chain Polyunsaturated Fatty Acids and Their Enzymatic Interesterification into Glycerolipids
- Optical coherence tomography in children with inherited retinal disease
- Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature
- Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndro
- Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
- Prevalence of inherited retinal diseases in a large Egyptian cohort
- Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging
- Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
- Protein modeling and in silico analysis to assess pathogenicity of <em>ABCA4</em> variants in patients with inherited retinal disease
- Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease
- QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease
- Recurrent and Concurrent Prediction of Longitudinal Progression of Stargardt Atrophy and Geographic Atrophy
- Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis
- Response to "Letter to the editor" regarding "Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease"
- Retina and RPE lipid profile changes linked with ABCA4 associated Stargardt's maculopathy
- Retinal Pattern Dystrophy
- Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease
- Scavenging of Cation Radicals of the Visual Cycle Retinoids by Lutein, Zeaxanthin, Taurine, and Melanin
- Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants
- Sstr2 Defines the Cone Differentiation-Competent Late-Stage Retinal Progenitor Cells in the Developing Mouse Retina
- Stargardt Disease
- Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
- Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
- Stargardt macular dystrophy and therapeutic approaches
- Stargardt's pigmentosa: A novel combination of two inherited retinal dystrophies
- Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis
- Stem Cell Therapy in Stargardt Disease: A Systematic Review
- Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics and Progression
- The Peripapillary Retina - A Common Juncture in Stargardt Disease and Idiopathic Intracranial Hypertension
- The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients
- Treatment patterns of individualized real-life tapering approaches based on shared decision-making in rheumatoid arthritis
- Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease
- Updates on Emerging Interventions for Autosomal Recessive <em>ABCA4</em>-Associated Stargardt Disease
- Validation of collaborative cyberspace virtual reality oculometry enhanced with near real-time spatial audio