• <em>CDHR1</em>-Related Cone-Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results-A Case Report
• <em>GUCY2D</em>-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data
• <em>IMPDH1</em>-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys3124Gln and a comprehensive literature search
• <em>RPGRIP1</em>-related retinal disease presenting as isolated cone dysfunction
• <em>TULP1</em> related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases
• A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes
• A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function
• A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (<em>Asrgl1</em>) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype
• A Novel <em>GUCA1A</em> Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase
• A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
• Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual
• Alström Syndrome with Early Vision and Hearing Impairement
• Alström syndrome: Two clinical cases with two novel pathogenic variants
• An inherited night blindness in Wiltshire sheep
• Analysis of <em>RPGR</em> gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy
• Analysis of rod-cone dystrophy genes reveals unique mutational patterns
• Artificial vision: the effectiveness of the OrCam in patients with advanced inherited retinal dystrophies
• Assessment of Scotopic Function in Rod-Cone Inherited Retinal Degeneration With the Scotopic Macular Integrity Assessment
• Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy
• Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations
• Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases
• Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene
• Bardet-Biedl syndrome: a case series
• Case Report: Multimodal Imaging Features of an ABCA4 Cone Dystrophy
• Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
• CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History
• Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review
• Choroidal structure investigated by choroidal vascularity index in patients with inherited retinal diseases
• Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy
• Clinical and genetic aspects of ABCA4-associated inherited retinal diseases
• Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
• Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant
• Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes
• CNG channel-related retinitis pigmentosa
• Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
• Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones
• Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family
• Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
• Concentric Reversible Visual Field Loss, Nyctalopia, and Dyschromatopsia with Ezetimibe Therapy
• Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration
• Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of <em>CNNM4</em> revealed by pupillometry and electrophysiologic investigations
• Cone photoreceptor preservation with laser photobiomodulation in murine and human retinal dystrophy
• Continuous Flow Synthesis of A2E Guided by Design of Experiments and High-Throughput Studies
• Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome
• Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors
• Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities
• Design, Synthesis, and In Vitro Evaluation of Novel 8-Amino-Quinoline Combined with Natural Antioxidant Acids
• Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6
• Differential impact of Kv8.2 loss on rod and cone signaling and degeneration
• Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
• EYS-Associated Sector Retinitis Pigmentosa
• Full-field stimulus threshold testing for evaluation of the retinal function in patients with inherited retinal dystrophy
• Gene Therapy in <em>Opn1mw^-/-/Opn1sw^-/-</em> Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations
• Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
• Genetic and Phenotypic Landscape of <em>PRPH2</em>-Associated Retinal Dystrophy in Japan
• Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy
• Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes
• GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1
• Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
• Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy
• Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
• Maculopathies Referred to Neuro-Ophthalmology Clinic as Optic Neuropathies: A Case Series
• Microperimetry Reliability Assessed From Fixation Performance
• Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date
• New Editing Tools for Gene Therapy in Inherited Retinal Dystrophies
• Non-vasogenic cystoid maculopathies
• Observations for Sjögren's Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy-An Extremely Rare Retinal Case Report
• Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy
• Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
• Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
• Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging
• Plasma Antiretinal Autoantibody Profiling and Diagnostic Efficacy in Patients With Autoimmune Retinopathy
• Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy
• Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population
• Presumed Unindicated Implantation of Posterior Chamber Phakic Intraocular Lens
• Prevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases
• Progressive Cone-Rod Dystrophy and RPE Dysfunction in <em>Mitf^mi/+</em> Mice
• PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations
• Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT)
• Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase
• Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort
• Retinitis Punctata Albescens and <em>RLBP1</em>-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy
• Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history
• RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
• Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy
• Structural basis of retinal membrane guanylate cyclase regulation by GCAP1 and RD3
• Tablet-based 'ON/OFF' pathway test can distinguish between rod- and cone-dominated diseases
• The Clinical Spectrum and Disease Course of DRAM2 Retinopathy
• The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis
• The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene
• The research output of rod-cone dystrophy genetics
• The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy
• THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus
• The Transition of Photoreceptor Guanylate Cyclase Type 1 to the Active State
• Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology
• Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
• Utility of No-Charge Panel Genetic Testing for Inherited Retinal Diseases in a Real-World Clinical Setting
• Very Large Cystoid Macular Lesions Identified Using Outlier Analysis of Genetically Confirmed Inherited Retinal Disease Cases