• A combination treatment based on drug repurposing demonstrates mutation-agnostic efficacy in pre-clinical retinopathy models
• A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure
• A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
• A novel compound heterozygous variant of MYO7A in Usher syndrome type 1
• A novel small deletion in <em>CWC27</em> gene associated with <em>CWC27</em>-related spliceosomeopathy
• A treatment within sight: challenges in the development of stem cell-derived photoreceptor therapies for retinal degenerative diseases
• Aberrant lipid accumulation and retinal pigment epithelium dysfunction in PRCD-deficient mice
• Aberrant lipid accumulation and retinal pigmental epithelium dysfunction in PRCD-deficient mice
• Adaptive Optics Optical Coherence Tomography Analysis of Induced Pluripotent Stem Cell-Derived Retinal Organoid Transplantation in Retinitis Pigmentosa
• Adaptive optics retinal imaging in patients with usher syndrome
• Analysis of PDE6G mutations in a patient with retinitis pigmentosa
• Applications of artificial intelligence in diagnosis of uncommon cystoid macular edema using optical coherence tomography imaging: A systematic review
• Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine
• Candidate proteins interacting with cytoskeleton in cells from the basal airway epithelium <em>in vitro</em>
• CD44 signaling in Müller cells impacts photoreceptor function and survival in healthy and diseased retinas
• CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History
• Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy
• Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes
• Clinical features of a novel compound heterozygous genotype of the <em>BBS2</em> gene: a case report
• Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes
• Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review
• Comparison of The Results of Sponsored Genetic Testing Panels for Inherited Retinal Diseases
• Concomitant ulcerative colitis and Usher syndrome in a Pakistani patient: A novel case report
• Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa
• Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases
• DIAGNOSTIC YIELD OF AN INHERITED RETINAL DISEASE GENE PANEL IN RETINOPATHY OF UNKNOWN ORIGIN
• DISCREPANCY BETWEEN FUNDUS AUTOFLUORESCENCE ABNORMALITY AND VISUAL FIELD LOSS IN BIETTI CRYSTALLINE DYSTROPHY
• Efficacy and Safety of Branched Chain Amino Acids on Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial
• Evaluating therapeutic potential of NR2E3 doses in the rd7 mouse model of retinal degeneration
• Exonic Short Interspersed Nuclear Element Insertion in <em>FAM161A</em> Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd
• Experimental study on treatment of retinitis pigmentosa by inducing Muller cell reprogramming with Lycii Fructus and Salviae Miltiorrhizae Radix et Rhizoma
• Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration
• Exploring Stem-Cell-Based Therapies for Retinal Regeneration
• Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant
• Genetic and Clinical Analyses of the <em>KIZ</em>-c.226C&gt;T Variant Resulting in a Dual Mutational Mechanism
• Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
• H105A peptide eye drops promote photoreceptor survival in murine and human models of retinal degeneration
• High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
• Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing
• Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey
• Inherited Retinal Diseases and Retinal Organoids as Preclinical Cell Models for Inherited Retinal Disease Research
• Inhibition of JNK ameliorates rod photoreceptor degeneration in a mouse model of retinitis pigmentosa
• Insights on the conformation and appropriate drug-target sites on retinal IMPDH1 using the 604-aa isoform lacking the C-terminal extension
• Intensity-based optoretinography reveals sub-clinical deficits in cone function in retinitis pigmentosa
• Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome
• Investigating Splice Defects in <em>USH2A</em> Using Targeted Long-Read Sequencing
• Investigating the impact of asymmetric macular sensitivity on visual acuity chart reading in choroideraemia
• Investigating the impact of asymmetric macular sensitivity on visual acuity chart reading in choroideremia
• Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7
• Long-Term Outcomes of Cochlear Implantation in Usher Syndrome
• Loss of ZNF408 attenuates STING-mediated immune surveillance in breast carcinogenesis
• Metabolic plasticity in a Pde6b(STOP/STOP) retinitis pigmentosa mouse model following rescue
• Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23
• Minocycline prevents photoreceptor degeneration in Retinitis pigmentosa through modulating mitochondrial homeostasis
• Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
• Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report
• Obesity-Related Ciliopathies: Focus on Advances of Biomarkers
• Ocular and Serum Profiles of Inflammatory Molecules Associated With Retinitis Pigmentosa
• Ocular Syphilis - Clinical Features and Outcome in HIV Positive and HIV Negative Patients from a Tertiary Eye Center from India - A Comparative Study
• Optic neuritis in retinitis pigmentosa
• Optimization-Based Pairwise Interaction Point Process (O-PIPP): A Precise and Universal Retinal Mosaic Modeling Approach
• Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa
• Photoreceptor-Mimetic Microflowers for Restoring Light Responses in Degenerative Retina through a 2D Nanopetal/Cell Biointerface
• Photovoltaic, wireless wide-field epiretinal prosthesis to treat retinitis pigmentosa
• Pigmented paravenous retinochoroidal atrophy and retinitis pigmentosa-like phenotype in the same patient: A case series
• Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
• Recent advancements and applications of ophthalmic gene therapy strategies: A breakthrough in ocular therapeutics
• Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration
• Retinal Focal Nodular Gliosis (Vasoproliferative Tumors) Have Varied Clinical Courses Requiring Tailored Management: A Case Series
• Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies
• Retinal vascular reactivity in carriers of X-linked inherited retinal disease - a study using optical coherence tomography angiography
• Retinitis pigmentosa and stem cell therapy
• Retinitis pigmentosa in DJ1- associated early-onset Parkinson's disease: A phenotypic expansion
• Retinitis Pigmentosa Sine Pigmento in a Patient With a Heterozygous Mutation on the KIF7 Gene: A Case Report
• Retinoic acid-dependent loss of synaptic output from bipolar cells impairs visual information processing in inherited retinal degeneration
• Risk of pedestrian collision for persons with peripheral field loss: A computational analysis
• Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene
• Safety of intravitreally delivered AAV2 vector-mediated multi-characteristic opsin genetic construct in wild type beagle dogs
• SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses
• Selective Assembly of TRPC Channels in the Rat Retina during Photoreceptor Degeneration
• Somatostatin analogues as a treatment option for cystoid maculopathy in retinitis pigmentosa
• Spectrum of pathogenic variants and high prevalence of pathogenic <em>BBS7</em> variants in Russian patients with Bardet-Biedl syndrome
• Structure of the Ion Channel Kir7.1 and Implications for its Function in Normal and Pathophysiologic States
• Synchronized photoactivation of T4K rhodopsin causes a chromophore-dependent retinal degeneration that is moderated by interaction with phototransduction cascade components
• Targeting Relevant HDACs to Support the Survival of Cone Photoreceptors in Inherited Retinal Diseases: Identification of a Potent Pharmacological Tool with In Vitro and In Vivo Efficacy
• The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia
• The potential of induced pluripotent stem cell-derived retinal organoids in regenerative medicine
• The retina's neurovascular unit: Müller glial sheaths and neuronal contacts
• The role of ultra-widefield imaging with navigated central and peripheral cross-sectional and three-dimensional swept source optical coherence tomography in ophthalmology: Clinical applications
• Transcriptome Study of rd1Mouse Brain and Association with Parkinson's Disease
• Type II Acute Macular Neuroretinopathy Secondary to Malaria
• Usher syndrome in the United Arab Emirates
• Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The <em>USH2A</em> Gene
• Using Electronic Health Record Data to Determine the Safety of Aqueous Humor Liquid Biopsies for Molecular Analyses
• Using multi-modal imaging to refine the phenotype of PRPH2-associated retinal degeneration
• Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
• Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy
• VDAC in Retinal Health and Disease
• Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of <em>BBS9</em>
• Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report