Frontlight ResearchEarly access
What researchers published on Retinitis pigmentosa
1,906 papers, newest first.
Showing 100 of 1,906
Wide-Field Fundus Autofluorescence Patterns in a Polish Cohort of Genotyped Patients with Phenotype of Retinitis Pigmentosa, Usher Syndrome and Cone-Rod Dystrophy.International journal of molecular sciences
Natural History of an Unusual Chorioretinal Phenotype Associated With the RHO p.(Met216Lys) Variant.Investigative ophthalmology & visual science
Activation of ER stress mediated by HspB4/Cryaa reduction contributes to photoreceptor apoptosis in rd9 mouse model of X-linked Retinitis Pigmentosa.Cell death & disease
Phenotypic Variability in Individuals With Genotype-Matched EYS- and USH2A-Associated Autosomal-Recessive Retinitis Pigmentosa.Translational vision science & technology
Review[The key factors affecting the efficacy of optogenetic therapy for retinitis pigmentosa].[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
The effects of blunt ocular trauma in patients with inherited retinal disease: a multicenter case series.Ophthalmic genetics
Single-cell transcriptome analysis highlights conserved transcriptional responses across multiple models of Retinitis Pigmentosa.Genes & diseases
Static Perimetry-OCT Topographical Overlay Findings in the RUSH2A Study.Translational vision science & technology
Comment on: Impact of Zonular Laxity on the Accuracy of Intraocular Lens Power Calculation Formulas in Cataract Patients With Retinitis Pigmentosa.American journal of ophthalmology
Anterior Capsulorhexis Optic Capture for Zonular Insufficiency: Three-Year Outcomes With a Retinitis Pigmentosa Subanalysis.Journal of cataract and refractive surgery
ApoE is associated with retinal inflammation during the progression of retinitis pigmentosa.Experimental eye research
Association Between Quality of Life and Visual Function in Inherited Retinal Disease: A Cross-sectional Study in a Retinal Genetics Centre.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)
AAV8-PDE6B with 3'UTR provides rescue of photoreceptor structure and function in the rd10 mouse model of retinitis pigmentosa.Gene therapy
Correction: Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.Frontiers in medicine
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.JAMA ophthalmology
Essential Kinase C Zeta in Nonsyndromic Retinitis Pigmentosa.JAMA ophthalmology
ReviewRetinitis Pigmentosa: A Review of Its Pathogenesis and Emerging Molecular and Cellular Therapies.Vision (Basel, Switzerland)
Case reportBilateral Multifocal Serous Retinal Pigment Epithelial Detachments Coexisting With Generalized Rod-Cone Dysfunction Resembling Retinitis Pigmentosa.Cureus
Plasma Membrane Calcium ATPases Drive Cytoplasmic Acidification and Photoreceptor Degeneration in Retinitis Pigmentosa.Investigative ophthalmology & visual science
ReviewRethinking nonsense suppression therapies in inherited retinal diseases.Trends in molecular medicine
ReviewFunctional response, retinal structure and safety of subretinal gene augmentation in retinitis pigmentosa: A systematic review and meta-analysis.Journal of controlled release : official journal of the Controlled Release Society
Erratum in: RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.Investigative ophthalmology & visual science
The First 40 Years of Molecular Ophthalmology Part One: Inherited Retinal Disease: The 2026 Friedenwald Lecture.Investigative ophthalmology & visual science
Geographic disparities in the distribution of ISGEDR-affiliated ocular genetics physicians relative to retinitis pigmentosa burden.Ophthalmic genetics
Cuproptosis-associated retinal degeneration in a mouse model of retinitis pigmentosa and neuroprotection by copper chelation.Neural regeneration research
Diffusion model with central annotation propagation for segmentation of ellipsoid zone maps on OCT scans of retinitis pigmentosa.Biomedical optics express
Optogenetic therapy shows early promise for treating retinitis pigmentosa.Nature medicine
Retinal Flattening Associated With Photoreceptor Degeneration Leads to the Formation of Staphyloma-Like Morphology in Retinitis Pigmentosa.Investigative ophthalmology & visual science
Peripheral Vascular Alterations in USH2A-Retinitis Pigmentosa and Relationship with Macular Involvement: A Cross-Sectional Study.Ophthalmology science
The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles.Frontiers in genetics
Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Unilateral subretinal administration of HORA-PDE6β in patients with retinitis pigmentosa harbouring mutations in the PDE6β gene: study protocol of HORA-PDE6β-001 phase I/II clinical trial.BMJ open ophthalmology
CERKL-related inherited retinal dystrophy in a Brazilian cohort: genotype-phenotype correlation.Experimental biology and medicine (Maywood, N.J.)
Randomised trialMicroperimetry Sensitivity Changes at the Functional Transition Zone and at the EZ Margins in X-Linked Retinitis Pigmentosa Treated With Gene Therapy.Translational vision science & technology
In plain wordsRead moreRead the paper on PubMedTrial resultOptogenetic Therapy for Restoring Aspects of Visual Function.The New England journal of medicine
In plain wordsRead moreRead the paper on PubMedRod photoreceptors have a dual dependency on both aerobic glycolysis and OXPHOS and diverge metabolically from other retinal neurons.Science advances
Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.American journal of human genetics
Retinitis Pigmentosa and erythrocytic microcytosis related to hypomorphic variants in the TRNT1 gene.Ophthalmic genetics
Unraveling RP1-Associated Retinal Dystrophies: Comprehensive Genetic, Clinical, and Disease Progression Analysis in China.Translational vision science & technology
Inflammatory Markers and Disease Progression in Moderate-Stage Retinitis Pigmentosa: Longitudinal Analysis from the Retinitis Pigmentosa Progression and Inflammatory Marker Registry Study.Ophthalmology science
Assessing awareness toward genetic testing among patients with inherited retinal dystrophy in Japan.Japanese journal of ophthalmology
Structure-Function Relationships in Retinitis Pigmentosa: Three-Year Changes in Visual Function and Outer Retinal Layers.Retina (Philadelphia, Pa.)
Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy.Nature communications
A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.Clinical genetics
ReviewThe Oxidative-Mitochondrial-Inflammatory Axis in Retinitis Pigmentosa: Extracellular mtDNA as Biomarker and Therapeutic Read-Out.Antioxidants (Basel, Switzerland)
Case reportLong-term natural history of spontaneous closure of a full-thickness macular hole in retinitis pigmentosa.BMJ case reports
Case reportFundus albipunctatus-like retinopathy in hypovitaminosis A-related optic neuropathy with skull hyperostosis.BMJ case reports
Retinal vessel oxygen metabolism correlates with photoreceptor degeneration in retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Nationwide epidemiology of retinitis pigmentosa in Japan, 2011-2020: a population-based cohort study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
A novel PRPF31 variant associated with autosomal dominant retinitis pigmentosa in Japanese families.Ophthalmic genetics
Altered Retinal Dopamine Homeostasis in Murine Models of Retinitis Pigmentosa.Journal of neurochemistry
Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.European journal of human genetics : EJHG
Case reportFLVCR1 Variant as a Cause of Retinal and Neurologic Dysfunction in Retinitis Pigmentosa with Coats-Like Vasculopathy: A Case Report.Case reports in ophthalmology
ReviewProgress in gene therapy for RPGR-associated X-linked retinitis pigmentosa.Expert opinion on biological therapy
A national cross-sectional study of patients with inherited retinal disease in China.Scientific reports
Targeted insertion of an optimized donor DNA is effective in a humanized mouse model of dominant retinitis pigmentosa.Cell reports. Medicine
Editorial: Global perspectives on genetic diagnosis and treatments for inherited retinal diseases.Frontiers in ophthalmology
Generation of isogenic gene-corrected cell lines from a USH2A-RP patient-derived iPS cell line.Stem cell research
Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.Ophthalmology science
Primary Bronchiectasis and Chronic Sinus Disease in Retinitis Pigmentosa.CHEST pulmonary
Evaluation of the retinal and choroidal microvasculature in retinitis pigmentosa using OCT-angiography: a meta-analysis.Therapeutic advances in ophthalmology
USH2A-Associated Retinitis Pigmentosa in Koreans: Molecular Genetics and Clinical Characteristics.American journal of ophthalmology
In vivo adaptive optics retinal imaging reveals rod-mediated cone photoreceptor disorganization in RHO-associated retinitis pigmentosa.npj biomedical innovations
ReviewPathological Retinal Oscillations across Retinal Diseases: Shared Circuit Mechanisms and Implications for Photopsia.Biological & pharmaceutical bulletin
Characterizing the non-pigmented retinitis pigmentosa in a Chinese cohort: Insights into phenotype, genotype, and disease progression.Advances in ophthalmology practice and research
Novel insights of minocycline as a neurovascular protective agent in retinitis pigmentosa.The British journal of ophthalmology
Risk of Systemic Comorbidities in Patients With Inherited Retinal Diseases.Ophthalmic surgery, lasers & imaging retina
Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.Genes
ReviewThe Trajectory of Gene Discovery in Retinitis Pigmentosa.Genes
Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.International journal of molecular sciences
ReviewFunctional Outcomes and Ocular Safety of Subretinal AAV-RPGR Gene Therapy for RPGR-Associated X-Linked Retinitis Pigmentosa: A Systematic Review and Meta-Analysis.Journal of clinical medicine
Coexistence of Retinitis Pigmentosa and Coats-Like Vitreoretinopathy.Turkish journal of ophthalmology
Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease.Investigative ophthalmology & visual science
Machine Learning-Based Classification of Retinitis Pigmentosa from Color Fundus Images: A Reproducible Benchmark and Screening-Oriented Pipeline.Vision (Basel, Switzerland)
Mitochondrial outer membrane protein FUNDC2 contributes to ferroptosis as a potential upstream regulator in retinitis pigmentosa.International journal of ophthalmology
Altered Pannexin2 Expression in Retinal Degeneration: Insights from the P23H Mouse Model of Retinis Pigmentosa.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology
Peripheral Retinal Vascular Biomarkers on Ultrawidefield Optical Coherence Tomography Angiography for Severity Grading in Retinitis Pigmentosa.American journal of ophthalmology
Csf1-Csf1r expression and late circulating CSF1 elevation during P23H retinal degeneration.Experimental and molecular pathology
CLUAP1 variants cause non-syndromic retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Case reportReverse amblyopia following gene therapy-induced visual improvement in a child with retinal pigment epithelium-65 inherited retinal dystrophy.BMJ case reports
Not all that floats is cysticercus: a non-pigmented vitreous cyst in retinitis pigmentosa.Eye (London, England)
Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.Case reports in ophthalmological medicine
Case reportIdentification of a novel likely pathogenic MT-TS2 variant in a patient with mitochondrial myopathy, retinitis pigmentosa and sensorineural hearing loss.Neuromuscular disorders : NMD
Association Between PS-OCT Derived Polarimetric Entropy and RPE Cellular Metrics Measured With Adaptive Optics Imaging in Retinitis Pigmentosa.Investigative ophthalmology & visual science
Phase I/IIa Study of an Intravitreal Optogenetic Therapy (AGN-151597) in Patients with Advanced Retinitis Pigmentosa.Ophthalmology science
Inherited Retinal Dystrophy in an 11-month-old Infant with Yunis-Varon Syndrome and Homozygous FIG4 Mutation.Retinal cases & brief reports
N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.Human molecular genetics
Meta-analysisEfficacy and safety of AAV RPGR gene therapy in X-linked retinitis pigmentosa: a systematic review and meta-analysis.Journal of translational medicine
In plain wordsRead moreRead the paper on PubMedThe efficacy and safety of oral and topical carbonic anhydrase inhibitors for the treatment of macular edema secondary to retinitis pigmentosa: a systematic review and meta-analysis.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Observational studyDefining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Investigative ophthalmology & visual science
Generation of retinitis pigmentosa patient-derived hiPSC lines (IDVi007-A, IDVi007-B) carrying the RHO c.68C > A variant (p.P23H) and CRISPR/Cas9-corrected isogenic hiPSC lines (IDVi007-A-1, IDVi007-A-2, IDVi007-A-3).Stem cell research
WDR34 Deficiency Disrupts Retrograde Intraflagellar Transport and Induces Unfolded Protein Response-Driven Inflammation and Retinal Degeneration.Investigative ophthalmology & visual science
Case reportIdentification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.Investigative ophthalmology & visual science
Case reportPAX6-associated aniridia and RPGR-related X-linked retinitis pigmentosa: a rare dual Mendelian molecular diagnosis.BMJ case reports
Metabolomics Effects of Folding Correction in Retinitis Pigmentosa Rhodopsin Mutant P23A.FASEB journal : official publication of the Federation of American Societies for Experimental Biology
A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction.Science advances
Lateral Geniculate Nucleus Volume Assessment Using Linear Mixed Model in Moderate and Advanced Retinitis Pigmentosa.Journal of clinical medicine
Clinical and Genetic Landscape of RPGR -Associated Retinal Dystrophies in Portugal: Insights From the Nationwide IRD-PT Registry.Clinical & experimental ophthalmology
Impact of Zonular Laxity on the Accuracy of Intraocular Lens Power Calculation Formulas in Cataract Patients With Retinitis Pigmentosa.American journal of ophthalmology
Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.Frontiers in medicine