Disease: Cone rod dystrophy
- <em>ABCA4</em> c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
- <em>ABCA4</em>-related retinopathies in Lebanon
- <em>RTN4IP1</em>-associated non-syndromic optic neuropathy and rod-cone dystrophy
- <em>USH2A</em> variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
- A CASE OF ALSTROM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING
- A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis
- A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy
- A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
- A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease
- Achromatopsia : Clinical aspects, diagnostics, genes, brain and quality of life
- Adaptive Optics
- Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy
- Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series
- Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of <em>CACNA1F</em>-Associated Retinopathy-A Case Report
- Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis
- An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up
- Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies
- ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study
- Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9
- Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management
- Cholesterol regulates plasma membrane bending by prominin-family proteins
- Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy
- Clinical, Genotypic and Imaging Characterization of the spectrum of ABCA4 Retinopathies
- Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies
- Coding and non-coding variants in the ciliopathy gene <em>CFAP410</em> cause early-onset non-syndromic retinal degeneration
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
- Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy
- COVID-19 Infection during Pregnancy: Disruptions in Lipid Metabolism and Implications for Newborn Health
- Dentofacial manifestations in a child with Jalili syndrome
- Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
- Diverse retinal-kidney phenotypes associated with <em>NPHP1</em> homozygous whole-gene deletions in patients with kidney failure
- Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy
- EQ-5D-5L health utility scores in Australian adults with inherited retinal diseases: A cross-sectional survey
- Evaluating of neonatal early onset sepsis through lactate and base excess monitoring
- Exacerbated response to oxidative stress in the Retinitis Pigmentosa Cerkl<sup>KD/KO</sup> mouse model triggers retinal degeneration pathways upon acute light stress
- Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity
- Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3
- Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance
- Foveal Hypoplasia in <em>CRB1</em>-Related Retinopathies
- Frequency and distribution of ophthalmic surgical procedures among patients with inherited retinal diseases
- Gastrulation and Split Cord Malformation
- Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion
- Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland
- Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis
- Germline knockout of <em>Nr2e3</em> protects photoreceptors in three distinct mouse models of retinal degeneration
- GNB1-Related Rod-Cone Dystrophy: A Case Report
- Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in <em>PEX1</em>
- Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations
- HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis
- Highly efficient capture approach for the identification of diverse inherited retinal disorders
- Hypomorphic <em>CDHR1</em> variants may result in retinitis pigmentosa with relative preservation of cone function
- Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function
- Identifying causes of vision loss and assistive technology needs among patients attending rehabilitation clinic of a tertiary care center in North India
- IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History
- Laurence-Moon-Bardet Biedl Syndrome With Cholelithiasis
- Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
- Mechanisms of cone sensitivity loss in retinitis pigmentosa
- Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites
- Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy
- Multimodal imaging of USH2A rod-cone dystrophy: Case report
- Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7
- Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort
- Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
- Nationwide epidemiologic survey on incidence of macular dystrophy in Japan
- Natural history and biomarkers of KCNV2-associated retinopathy
- Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
- Novel pathogenic variants in Tubulin Tyrosine Like 5 (<em>TTLL5)</em> associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype
- Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype
- Pathogenicity and functional analysis of <em>CFAP410</em> mutations causing cone-rod dystrophy with macular staphyloma
- Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma
- Peripapillary vessel density in eyes with cone-rod dystrophy
- Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy
- Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndro
- POLYPOIDAL CHOROIDAL VASCULOPATHY ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA
- Prevalence of inherited retinal diseases in a large Egyptian cohort
- Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging
- Prominin 1 and Tweety Homology 1 both induce extracellular vesicle formation
- Protein modeling and in silico analysis to assess pathogenicity of <em>ABCA4</em> variants in patients with inherited retinal disease
- PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
- RBP3-retinopathy - inherited high myopia and retinal dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
- RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
- Recombinant protein delivery enables modulation of the phototransduction cascade in mouse retina
- Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration
- Research progress of RP1L1 gene in disease
- RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily
- RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15
- RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy
- Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
- Shwachman-Diamond syndrome associated with rod-cone dystrophy
- Sstr2 Defines the Cone Differentiation-Competent Late-Stage Retinal Progenitor Cells in the Developing Mouse Retina
- Stress-Induced Changes in Nucleocytoplasmic Localization of Crucial Factors in Gene Expression Regulation
- Structural and functional characterization of an individual with the M285R <em>KCNV2</em> hypomorphic allele
- Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
- The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies
- The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
- Timing of Maternal COVID-19 Vaccine and Antibody Concentrations in Infants Born Preterm
- Understanding the relationship between pachychoroid spectrum disorders and retinitis pigmentosa: A review of the evidence
- Unique phenotypic-genotypic correlation in Saudi patients with <em>ALMS1</em> mutations
- Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
- Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data