• <em>ABCA4</em>-related retinopathies in Lebanon
• <em>RTN4IP1</em>-associated non-syndromic optic neuropathy and rod-cone dystrophy
• A CASE OF ALSTROM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING
• A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review
• A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss
• 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
• Aberrant lipid accumulation and retinal pigment epithelium dysfunction in PRCD-deficient mice
• Ablation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of Cone-Tropic 9-cis-Retinal in rd12 Mouse Model of Leber Congenital Amaurosis
• 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 Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy
• 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
• ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study
• Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients
• 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
• Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy
• Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy
• Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia
• Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy
• 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, Ophthalmic and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early Onset Severe Retinal Dystrophy
• Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy
• 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
• De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
• Dentofacial manifestations in a child with Jalili syndrome
• Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy
• Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy
• 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
• Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene
• Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity
• Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series
• Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance
• Frequency and Distribution of Ophthalmic Surgical Procedures among Patients with Inherited Retinal Diseases
• 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
• HBS1L deficiency causes retinal dystrophy in a child and a mouse model associated with defective development of photoreceptor cells
• HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells
• Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in <em>PEX1</em>
• 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
• Identifying causes of vision loss and assistive technology needs among patients attending rehabilitation clinic of a tertiary care center in North India
• In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone-Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A
• 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
• Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in <em>CDH23</em>
• Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders
• 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
• Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
• Natural history and biomarkers of KCNV2-associated retinopathy
• Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study
• Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
• 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
• Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance
• Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients
• 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
• Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum
• Prominin 1 and Tweety Homology 1 both induce extracellular vesicle formation
• Prominin 1 and Tweety Homology 1 both induce extracellular vesicle formation
• Prominin-1 null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy, and RPE atrophy
• 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
• RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes
• Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration
• Research progress of RP1L1 gene in disease
• Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation
• Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene
• RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily
• RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy
• Shwachman-Diamond syndrome associated with rod-cone dystrophy
• 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 Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia
• Thiamine-responsive megaloblastic anaemia
• 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