• <em>RPGRIP1</em>-related retinal disease presenting as isolated cone dysfunction
• A mouse model of cone photoreceptor function loss <em>(cpfl9)</em> with degeneration due to a mutation in <em>Gucy2e</em>
• A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
• A novel <em>CEP290</em> disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing
• A novel c.1937T&gt;C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis
• A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report
• A novel nonsense variant (c.1499C&gt;G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review
• A Systematic Review and Meta-Analyses of Interventional Clinical Trial Studies for Gene Therapies for the Inherited Retinal Degenerations (IRDs)
• AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype
• AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis
• Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats
• Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA^CEP290 patients
• Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with <em>RPE65</em>-related leber congenital amaurosis
• Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing
• Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision
• Assessing the Accuracy, Quality, and Readability of Patient Accessible Online Resources Regarding Ocular Gene Therapy and Voretigene Neparvovec
• Biallelic <em>RP1</em>-associated retinal dystrophies: Expanding the mutational and clinical spectrum
• Choroidal structure investigated by choroidal vascularity index in patients with inherited retinal diseases
• Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
• Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
• Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Clinical and Therapeutic Evaluation of the Ten Most Prevalent <em>CRB1</em> Mutations
• Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India
• Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy
• Combined rod and cone transduction by adeno-associated virus 2/8
• Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations
• Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
• Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
• CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History
• Current perspectives in Leber congenital amaurosis type 8 mouse modeling
• Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in <em>Crb1</em>
• Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report
• Dual-AAV split prime editor corrects the mutation and phenotype in mice with inherited retinal degeneration
• Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
• Functional study of two biochemically unusual mutations in <em>GUCY2D</em> Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas
• Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
• Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1
• Gene therapy in hereditary retinal dystrophy
• Gene therapy in PIDs, hemoglobin, ocular, neurodegenerative, and hemophilia B disorders
• Gene therapy treatment based on an ophthalmic indication in hereditary retinal dystrophy caused by RPE65 biallelic gene mutation.
• Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis
• Gene-Based Therapeutics for Inherited Retinal Diseases
• Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants
• Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis
• Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
• Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals
• Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
• Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis
• HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis
• Homozygosity for a Novel <em>DOCK7</em> Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
• Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in <em>GUCY2D</em> in a consanguineous Pakistani family with Leber congenital amaurosis
• Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1
• In Silico Analysis of Pathogenic <em>CRB1</em> Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention
• In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration
• Inherited Retinal Diseases Due to <em>RPE65</em> Variants: From Genetic Diagnostic Management to Therapy
• Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics
• Inherited retinal dystrophies in a Kuwaiti tribe
• Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
• Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia
• Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
• Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis
• Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome
• Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development
• Metabolism in the Zebrafish Retina
• Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
• Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS
• Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1
• Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies
• Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG
• NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants
• Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy
• Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation
• Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic <em>RPGRIP1</em> Gene Variation in a Chinese Cohort
• PacMAGI: A pipeline including accurate indel detection for the analysis of PacBio sequencing data applied to RPE65
• Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis
• Preclinical studies in support of phase I/II clinical trials to treat <em>GUCY2D</em>-associated Leber congenital amaurosis
• Predictors of Receiving Keratoplasty for Keratoconus
• Progress in Clinical Gene Therapy for Cardiac Disorders
• Protrusion of KCNJ13 Gene Knockout Retinal Pigment Epithelium Due to Oxidative Stress-Induced Cell Death
• 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
• Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT)
• RD3: a challenge and a promise
• RDH12 retinopathy: clinical features, biology, genetics and future directions
• Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis
• Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis
• Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
• Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients
• Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease
• RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
• Stem cells for treating retinal degeneration
• Synthetic Biology Design as a Paradigm Shift toward Manufacturing Affordable Adeno-Associated Virus Gene Therapies
• The clinical cutting edge
• The genetic landscape of inherited retinal dystrophies in Arabs
• The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene
• The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS
• The Role of Inflammation in Retinal Neurodegeneration and Degenerative Diseases
• The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis
• The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control
• Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration