Disease: Retinal cne dystrphy 2
- <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
- 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 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
- Disease Progression in <em>CNGA3</em> and <em>CNGB3</em> Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies
- 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<sup>-/-</sup>/Opn1sw<sup>-/-</sup></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
- 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
- Pathognomonic ERG predicting the genetic diagnosis: Cone dystrophy with supernormal rod response
- 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<sup>mi/+</sup></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
- Retinal Vascular Abnormalities in Different Types of Inherited Retinal Dystrophies Assessed by Optical Coherence Tomography Angiography
- 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
- Structural Insights into Retinal Guanylate Cyclase Activator Proteins (GCAPs)
- 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
- 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