• <em>ABCA4</em> c.6480-35A&gt;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
• ABCA4 variant screening in a Turkish cohort with Stargardt disease
• Aberrant lipid accumulation and retinal pigment epithelium dysfunction in PRCD-deficient mice
• An adenine base editor variant expands context compatibility
• Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in <em>ABCA4</em>
• 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 exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes
• 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
• Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases
• 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
• Exploring Stem-Cell-Based Therapies for Retinal Regeneration
• Generation and characterization of a Stargardt's disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4
• Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G&gt;A
• Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C&gt;T) using non-integrative Sendai virus-based approach
• Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis
• Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants
• Impaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis
• 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
• LipidUNet-Machine Learning-Based Method of Characterization and Quantification of Lipid Deposits Using iPSC-Derived Retinal Pigment Epithelium
• Longitudinal Adaptive Optics Scanning Laser Ophthalmoscopy Reveals Regional Variation in Cone and Rod Photoreceptor Loss in Stargardt Disease
• Longitudinal imaging of 8-year progression in a teenager with 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
• Major Contribution of c.[1622T&gt;C;3113C&gt;T] Complex Allele and c.5882G&gt;A Variant in <em>ABCA4</em>-Related Retinal Dystrophy in an Eastern European Population
• 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 in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease
• Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration
• Nationwide epidemiologic survey on incidence of macular dystrophy in Japan
• Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
• Novel and Recurrent Copy Number Variants in <em>ABCA4</em>-Associated Retinopathy
• Novel Approaches for Elongation of Fish Oils into Very-Long-Chain Polyunsaturated Fatty Acids and Their Enzymatic Interesterification into Glycerolipids
• Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance
• Optical coherence tomography in children with inherited retinal disease
• 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
• Presentation and Clinical Features of Stargardt Disease in a Series of Nigerian Patients
• Prevalence of inherited retinal diseases in a large Egyptian cohort
• Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging
• Progression rate of macular retinal pigment epithelium atrophy in geographic atrophy and selected inherited retinal dystrophies. A systematic review and meta-analysis
• 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
• Recent advancements and applications of ophthalmic gene therapy strategies: A breakthrough in ocular therapeutics
• 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"
• Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients
• Retinoic acid related orphan receptor alpha is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD
• Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease
• Safety of intravitreally delivered AAV2 vector-mediated multi-characteristic opsin genetic construct in wild type beagle dogs
• 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
• Structural and Functional Characterization of the Nucleotide-binding Domains of ABCA4 and their Role in Stargardt Disease
• Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics and Progression
• The ABCs of Stargardt disease: the latest advances in precision medicine
• The Peripapillary Retina - A Common Juncture in Stargardt Disease and Idiopathic Intracranial Hypertension
• The Progression of Stargardt Disease (ProgStar) as determined by spectral-domain optical coherence tomography over a 24-month period (ProgStar Report No. 19)
• The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18)
• The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients
• The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease
• Time-Resolved Dynamic Optical Coherence Tomography for Retinal Blood Flow Analysis
• Towards Stem/Progenitor Cell-Based Therapies for Retinal Degeneration
• 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