Disease: Pigmentary retinopathy
- <em>PRPH2</em>-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
- A novel genomic rearrangement on chr19q13.42 leads to PRPF31-associated retinitis pigmentosa
- A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31
- Aberrant Lipid Accumulation leads to Retinal Pigmental Epithelium Dysfunction and Photoreceptor Degeneration in <em>Prcd</em> -deficient mice
- Advances in the diagnosis and treatment of Bardet-Biedl syndrome
- Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report
- Alteration Ocular Motility in Retinitis Pigmentosa: Case-Control Study
- An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa
- Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene
- Assessment of Visual Function With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa in the Randomized XIRIUS Phase 2/3 Study
- Automated detection of nine infantile fundus diseases and conditions in retinal images using a deep learning system
- Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings
- Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <em>BBS9</em>
- Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort
- Biallelic variation in the choline and ethanolamine transporter <em>FLVCR1</em> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
- Biomechanical Characterization of Retinal Pigment Epitheliums Derived from hPSCs Using Atomic Force Microscopy
- Bone Marrow-derived Mesenchymal Stem Cell Therapy in Retinitis Pigmentosa
- Cell therapy for retinal degenerative disorders: a systematic review and three-level meta-analysis
- Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss
- Comparison of Full-Field Stimulus Threshold Measurements in Patients With Retinitis Pigmentosa and Healthy Subjects With Dilated and Nondilated Pupil
- Compounding engineered mesenchymal stem cell-derived exosomes: A potential rescue strategy for retinal degeneration
- Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
- Corrigendum: Electrically-evoked responses for retinal prostheses are differentially altered depending on ganglion cell types in outer retinal neurodegeneration caused by <em>Crb1</em> gene mutation
- Cost-of-illness studies of inherited retinal diseases: a systematic review
- CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut
- CRISPR editing of anti-anemia drug target rescues independent preclinical models of retinitis pigmentosa
- Current understanding of acute zonal occult outer retinopathy (AZOOR)
- Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic
- Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation
- Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
- Effect of molecular hydrogen, a novelly-established antioxidant, on the retinal degeneration of hereditary retinitis pigmentosa: an in-vivo study
- Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations
- Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
- Fine-tuning FAM161A gene augmentation therapy to restore retinal function
- Frequency and distribution of ophthalmic surgical procedures among patients with inherited retinal diseases
- G protein-coupled receptor (GPCR) gene variants and human genetic disease
- Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene
- Genetic context modulates aging and degeneration in the murine retina
- 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>
- Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina
- Identifying Hmga2 preserving visual function by promoting a shift of Müller glia cell fate in mice with acute retinal injury
- IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report
- Inherited retinal dystrophies and orphan designations in the European Union
- Investigating the ERG a-wave and Retinal Diseases with Rod Equivalent Circuit Model Based on the APD
- Light regulation of rhodopsin distribution during outer segment renewal in murine rod photoreceptors
- Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
- Lycium barbarum glycopeptide (wolfberry extract) slows N-methyl-N-nitrosourea-induced degradation of photoreceptors
- Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review
- Masquerade syndrome: A review of uveitic imposters
- Modeling autosomal dominant retinitis pigmentosa by using patient-specific retinal organoids with a class-3 RHO mutation
- Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
- Multimodal imaging in deferasirox-mediated retinopathy
- Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes
- Open-Angle and Steroid-Induced Glaucoma in Patients With Retinitis Pigmentosa: A Dangerous Liaison
- Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy
- Optical coherence tomography angiography in the diagnosis of ocular disease
- Optimal transcorneal electrical stimulation parameters for preserving photoreceptors in a mouse model of retinitis pigmentosa
- Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy
- Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance
- Phenotype of bilateral EYS-associated occult macular dystrophies based on multimodal imaging
- PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
- Posterior microphthalmos with retinal involvement related to <em>MFRP</em> gene: a report of 10 Brazilian patients
- Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene
- Prognostic impact of hyperreflective foci in nonsyndromic retinitis pigmentosa
- PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects
- Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom
- Quantitative microvascular analysis in different stages of retinitis pigmentosa using optical coherence tomography angiography
- Rapid Variant Pathogenicity Analysis by CRISPR Activation of <em>CRB1</em> Gene Expression in Patient-Derived Fibroblasts
- Rare diseases and pyruvate kinase M2: a promising therapeutic connection
- Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion
- Recent Progress in Photoreceptor Cell-Based Therapy for Degenerative Retinal Disease
- Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7)
- Regeneration of the Retina Using Pluripotent Stem Cells: A Comprehensive Review
- Regenerative treatment of ophthalmic diseases with stem cells: Principles, progress, and challenges
- Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration
- Research progress of RP1L1 gene in disease
- Restoring retinal polyunsaturated fatty acid balance and retina function by targeting ceramide in AdipoR1 deficient mice
- Retention Rates of Genetic Therapies Based on AAV Serotypes 2 and 8 Using Different Drug-Delivery Materials
- Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation
- Rhodopsin mislocalization drives ciliary dysregulation in a novel autosomal dominant retinitis pigmentosa knock-in mouse model
- Role of microglia/macrophage polarisation in intraocular diseases (Review)
- Rosai Dorfman Disease: A Rare Case Report
- RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec
- RPGR is a guanine nucleotide exchange factor for the small GTPase RAB37 required for retinal function via autophagy regulation
- Shwachman-Diamond syndrome associated with rod-cone dystrophy
- Similar Binding Modes of cGMP Analogues Limit Selectivity in Modulating Retinal CNG Channels via the Cyclic Nucleotide-Binding Domain
- Simultaneous Pigmented Paravenous Retinochoroidal Atrophy and Retinitis Pigmentosa in the Contralateral Eye
- Synergistic effect of chitosan and beta-carotene in inhibiting MNU-induced retinitis pigmentosa
- Systematic study of ophthalmological findings in 10 patients with <em>PEX1</em>-mediated Zellweger spectrum disorder
- Tamoxifen protects photoreceptors in the sodium iodate model
- The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
- The deubiquitinase Otud7b suppresses cone photoreceptor degeneration in mouse models of retinal degenerative diseases
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
- Understanding the relationship between pachychoroid spectrum disorders and retinitis pigmentosa: A review of the evidence
- Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM)
- Unveiling Drivers of Retinal Degeneration in RCS Rats: Functional, Morphological, and Molecular Insights
- Voluntary exercise preserves visual function and reduces inflammatory response in an adult mouse model of autosomal dominant retinitis pigmentosa
- Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice