• <em>PNPLA6</em> disorders: what's in a name?
• <em>RPE65</em> mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India
• A combination treatment based on drug repurposing demonstrates mutation-agnostic efficacy in pre-clinical retinopathy models
• A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
• A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility
• A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay
• A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
• AAV Serotypes and Their Suitability for Retinal Gene Therapy
• Ablation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of Cone-Tropic 9-cis-Retinal in rd12 Mouse Model of Leber Congenital Amaurosis
• An Overview of Nonclinical and Clinical Liver Toxicity Associated With AAV Gene Therapy
• Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing
• Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases
• Author Correction: Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans
• Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <em>BBS9</em>
• Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform
• Bilateral exudative retinal detachments after subretinal gene therapy with voretigene neparvovec-rzyl for RPE65 Leber Congenital Amaurosis
• Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype
• Cell-based Therapies for Corneal and Retinal Disorders
• Central visual pathways affected by degenerative retinal disease before and after gene therapy
• Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes
• Characterization and AAV-mediated <em>CRB</em> gene augmentation in human-derived <em>CRB1</em>^KO and <em>CRB1</em>^KO<em>CRB2</em>^+/- reti
• Classification and Growth Rate of Chorioretinal Atrophy after Voretigene Neparvovec-Rzyl for RPE65-Mediated Retinal Degeneration
• Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort
• Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis
• Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy
• Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal Dystrophies
• Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy
• Clinical, Ophthalmic and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early Onset Severe Retinal Dystrophy
• Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy
• Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations
• Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance
• Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
• Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
• Correction to: "Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors"
• Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
• Correction: Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65
• Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?
• CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids
• CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut
• CRISPR-Cas9 correction of a nonsense mutation in <em>LCA5</em> rescues lebercilin expression and localization in human retinal organoids
• Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases
• Current Advancements in Mouse Models of Retinal Disease
• Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants
• Diagnostic Challenges in <em>ABCA4</em>-Associated Retinal Degeneration: One Gene, Many Phenotypes
• Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
• Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in <em>CEP2</em>90-LCA: Replication in two eyes
• Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4
• Electroretinography in congenital nystagmus patients with a normal fundus examination
• Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models
• Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations
• Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences
• Foveal Hypoplasia in <em>CRB1</em>-Related Retinopathies
• Frequency and Pattern of Worldwide Ocular Gene Therapy Clinical Trials up to 2022
• Gene Augmentation for Autosomal Dominant CRX-Associated Retinopathies
• Gene therapy for heart failure and cardiomyopathies
• Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections
• Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3
• Generation of two hiPSC lines carrying compound heterozygous RDH12 mutations in a LCA patient
• Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65
• Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis
• Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials
• HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis
• Highly efficient capture approach for the identification of diverse inherited retinal disorders
• Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina
• Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics
• IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History
• Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1
• Leukemia Inhibitory Factor Protects against Degeneration of Cone Photoreceptors Caused by RPE65 Deficiency
• Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation
• Metabolic changes and retinal remodeling in Heterozygous CRX mutant cats (CRX^RDY/+)
• Multi-luminance mobility testing after gene therapy in the context of retinal functional diagnostics
• Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy
• Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
• Novel Variant <em>IMPDH1</em> c.134A&gt;G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance
• Optical coherence tomography in children with inherited retinal disease
• PAM-flexible Engineered FnCas9 variants for robust and ultra-precise genome editing and diagnostics
• Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies
• 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
• Progress and prospects of gene therapy in ophthalmology from 2000 to 2022: A bibliometric analysis
• Publication trends of Leber congenital amaurosis researches: a bibliometric study during 2002-2022
• Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures
• Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom
• Real-world experience with Voretigene Neparvovec gene augmentation therapy in RPE65-mutation associated inherited retinal degeneration
• Recent advancements and applications of ophthalmic gene therapy strategies: A breakthrough in ocular therapeutics
• Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans
• Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration
• RNA-Seq Analysis of Trans-Differentiated ARPE-19 Cells Transduced by AAV9-AIPL1 Vectors
• RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India
• Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis
• Screening for Autism Spectrum Disorder in Children and Adolescents With Leber's Congenital Amaurosis
• Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives
• Structure of the Ion Channel Kir7.1 and Implications for its Function in Normal and Pathophysiologic States
• The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort
• The Structural Abnormalities Are Deeply Involved in the Cause of <em>RPGRIP1</em>-Related Retinal Dystrophy in Japanese Patients
• Unique phenotypic-genotypic correlation in Saudi patients with <em>ALMS1</em> mutations
• Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of <em>RPE65</em> Leber congenital amaurosis
• Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of RPE65 Leber congenital amaurosis
• Update on gene therapies in pediatric ophthalmology
• Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice
• Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes