• A comparative FISH mapping of LCA5L gene in cattle, sheep, and goats
• A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review
• AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype
• Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats
• Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing
• Choroidal structure investigated by choroidal vascularity index in patients with inherited retinal diseases
• Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
• Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
• Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
• Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
• In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells
• Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
• 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
• Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking
• Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
• Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development
• Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy
• Rare case of dual diagnosis in consanguineous family: a case report
• Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
• Stem cells for treating retinal degeneration
• The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control