• A new novel nonsense mutation in <em>AIPL1</em> in a LCA4 family
• Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats
• Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish
• Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA^CEP290 patients
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
• Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants
• Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsRO
• Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in <em>CEP2</em>90-LCA: Replication in two eyes
• Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy
• Gene therapy in hereditary retinal dystrophy
• Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
• Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
• Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis
• Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
• Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina
• NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants
• Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis
• Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease
• The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors
• The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control