• Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA^CEP290 patients
• Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants
• Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence
• Choroidal structure investigated by choroidal vascularity index in patients with inherited retinal diseases
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History
• 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
• 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
• Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
• Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
• Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease
• NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants
• NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype
• Progress and prospects of gene therapy in ophthalmology from 2000 to 2022: A bibliometric analysis
• Relative frequency of inherited retinal dystrophies in Brazil
• Retinoid therapy restores eye-specific cortical responses in adult mice with retinal degeneration
• SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration
• TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness