• <em>CRB1</em>-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
• <em>GUCY2D</em> mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness
• <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 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 Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy
• Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats
• Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseases
• Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision
• Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <em>BBS9</em>
• Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
• 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 and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in <em>NMNAT1</em>: a case report and mini review
• Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review
• Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal Dystrophies
• 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
• Coats-like Vasculopathy and Vitreous Hemorrhage in Leber Congenital Amaurosis 6
• Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
• Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?
• CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up
• CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut
• CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History
• Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases
• Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network
• 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>
• Diagnostic Challenges in <em>ABCA4</em>-Associated Retinal Degeneration: One Gene, Many Phenotypes
• Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in <em>CEP2</em>90-LCA: Replication in two eyes
• Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report
• Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population
• Electroretinography in congenital nystagmus patients with a normal fundus examination
• Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
• Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
• Foveal Hypoplasia in <em>CRB1</em>-Related Retinopathies
• Frequency and Pattern of Worldwide Ocular Gene Therapy Clinical Trials up to 2022
• Gene Therapy for Inherited Retinal Disorders: Update on Clinical Trials
• Gene therapy in hereditary retinal dystrophy
• Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids
• Gene therapy treatment based on an ophthalmic indication in hereditary retinal dystrophy caused by RPE65 biallelic gene mutation.
• Gene-Based Therapeutics for Inherited Retinal Diseases
• Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
• 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
• 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
• Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis
• Inherited Retinal Diseases Due to <em>RPE65</em> Variants: From Genetic Diagnostic Management to Therapy
• Inherited retinal diseases: Therapeutics, clinical trials and end points-A review
• 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
• IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History
• Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome
• Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1
• LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review
• Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report
• Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development
• Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China
• Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1
• Multi-luminance mobility testing after gene therapy in the context of retinal functional diagnostics
• Night vision restored in days after decades of congenital blindness
• Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis
• 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
• Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort
• Optical coherence tomography in children with inherited retinal disease
• PAM-flexible Engineered FnCas9 variants for robust and ultra-precise genome editing and diagnostics
• Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis
• Predictors of Receiving Keratoplasty for Keratoconus
• Progress and prospects of gene therapy in ophthalmology from 2000 to 2022: A bibliometric analysis
• Psychometric Validation of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis
• Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom
• Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT)
• Rare case of dual diagnosis in consanguineous family: a case report
• RDH12 retinopathy: clinical features, biology, genetics and future directions
• Real-world experience with Voretigene Neparvovec gene augmentation therapy in RPE65-mutation associated inherited retinal degeneration
• Recent advances on visual cycle protein research and progress on clinical translation
• Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
• Retinal degeneration-3 protein promotes photoreceptor survival by suppressing activation of guanylyl cyclase rather than accelerating GMP recycling
• RNA-based therapies in animal models of Leber congenital amaurosis causing blindness
• RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India
• Safety and improved efficacy signals following gene therapy in childhood blindness caused by <em>GUCY2D</em> mutations
• SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis
• Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec
• Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa
• Synthetic Biology Design as a Paradigm Shift toward Manufacturing Affordable Adeno-Associated Virus Gene Therapies
• Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium
• The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing
• The Structural Abnormalities Are Deeply Involved in the Cause of <em>RPGRIP1</em>-Related Retinal Dystrophy in Japanese Patients
• The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control
• Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice
• Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence
• Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
• Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
• Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes