retinitis pigmentosa
SaudiVarKB evidence summary derived from retained literature mentions.
84Phenotype mentions
84Publications
50Associated gene records
22Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| RPGR | HGNC:10295 | 5 | 5 |
| TULP1 | HGNC:12423 | 3 | 3 |
| PRPF31 | HGNC:15446 | 3 | 3 |
| RPE65 | HGNC:10294 | 3 | 3 |
| RPGRIP1 | HGNC:13436 | 2 | 2 |
| FLVCR1 | HGNC:24682 | 2 | 2 |
| EYS | HGNC:21555 | 2 | 2 |
| MYO7A | HGNC:7606 | 2 | 2 |
| PRPF8 | HGNC:17340 | 2 | 2 |
| CNGB1 | HGNC:2151 | 2 | 2 |
| RP1 | HGNC:10263 | 2 | 2 |
| MERTK | HGNC:7027 | 2 | 2 |
| AGBL5 | HGNC:26147 | 2 | 2 |
| AR | HGNC:644 | 1 | 1 |
| GUCY2D | HGNC:4689 | 1 | 1 |
| ERG | HGNC:3446 | 1 | 1 |
| GCK | HGNC:4195 | 1 | 1 |
| IQCB1 | HGNC:28949 | 1 | 1 |
| SCAPER | HGNC:13081 | 1 | 1 |
| INS | HGNC:6081 | 1 | 1 |
| USH2A | HGNC:12601 | 1 | 1 |
| ADGRV1 | HGNC:17416 | 1 | 1 |
| CLRN1 | HGNC:12605 | 1 | 1 |
| RP1L1 | HGNC:15946 | 1 | 1 |
| CD59 | HGNC:1689 | 1 | 1 |
| DHX38 | HGNC:17211 | 1 | 1 |
| CRB1 | HGNC:2343 | 1 | 1 |
| ABCA4 | HGNC:34 | 1 | 1 |
| RDH5 | HGNC:9940 | 1 | 1 |
| RLBP1 | HGNC:10024 | 1 | 1 |
| ACO2 | HGNC:118 | 1 | 1 |
| INSR | HGNC:6091 | 1 | 1 |
| PRPF6 | HGNC:15860 | 1 | 1 |
| PIBF1 | HGNC:23352 | 1 | 1 |
| USH1C | HGNC:12597 | 1 | 1 |
| HNF1A | HGNC:11621 | 1 | 1 |
| HNF4A | HGNC:5024 | 1 | 1 |
| USH1G | HGNC:16356 | 1 | 1 |
| BBS9 | HGNC:30000 | 1 | 1 |
| PRSS56 | HGNC:39433 | 1 | 1 |
| RHO | HGNC:10012 | 1 | 1 |
| RGR | HGNC:9990 | 1 | 1 |
| SPATA7 | HGNC:20423 | 1 | 1 |
| CDH16 | HGNC:1755 | 1 | 1 |
| CBL | HGNC:1541 | 1 | 1 |
| PRPF3 | HGNC:17348 | 1 | 1 |
| SNRNP200 | HGNC:30859 | 1 | 1 |
| RP9 | HGNC:10288 | 1 | 1 |
| GNS | HGNC:4422 | 1 | 1 |
| DNAJC17 | HGNC:25556 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.1256G>A | c.1256G>A | 1 | 1 |
| p.Ala486Asp | p.Ala486Asp | 1 | 1 |
| c.2605A>T | c.2605A>T | 1 | 1 |
| p.Lys869Ter | p.Lys869Ter | 1 | 1 |
| c.6714delT | c.6714delT | 1 | 1 |
| c.3544_3545insAGAAAAGCTG | c.3544_3545insAGAAAAGCTG | 1 | 1 |
| c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG | c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG | 1 | 1 |
| p.Ser201Phe | p.Ser201Phe | 1 | 1 |
| c.198_199insA | c.198_199insA | 1 | 1 |
| c.1219_1226del | c.1219_1226del | 1 | 1 |
| c.910_911insT | c.910_911insT | 1 | 1 |
| c.529C>T | c.529C>T | 1 | 1 |
| p.Arg177Trp | p.Arg177Trp | 1 | 1 |
| p.S243X | p.S243X | 1 | 1 |
| R150Q | R150Q | 1 | 1 |
| p.Arg125Trp | p.Arg125Trp | 1 | 1 |
| c.730-22_730-19dup | c.730-22_730-19dup | 1 | 1 |
| p.Pro429Leu | p.Pro429Leu | 1 | 1 |
| p.Gly868Asp | p.Gly868Asp | 1 | 1 |
| c.2093_2104dupGCGACCTCATCT | c.2093_2104dupGCGACCTCATCT | 1 | 1 |
| p.Arg361* | p.Arg361* | 1 | 1 |
| p.R651X | p.R651X | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 8 | 8 |
| Saudi Arabia | — | 5 | 5 |
| Population record | — | 3 | 3 |
| Population record | Cohort 17 | 1 | 1 |
| Population record | Cohort 20 | 1 | 1 |
| Population record | Cohort 10 | 1 | 1 |
| Population record | Cohort 19 | 1 | 1 |
| Population record | Cohort 11 | 1 | 1 |
| Population record | Cohort 2 | 1 | 1 |
| Population record | Cohort 50 | 1 | 1 |
| Population record | Cohort 31 | 1 | 1 |
| Population record | Cohort 30 | 1 | 1 |
| Population record | Cohort 15 | 1 | 1 |
| Population record | Cohort 25 | 1 | 1 |
| Population record | Cohort 27 | 1 | 1 |
| Population record | Cohort 34 | 1 | 1 |
| Saudi Arabia | Cohort 42 | 1 | 1 |
| Population record | Cohort 798 | 1 | 1 |
| Saudi Arabia | Cohort 12 | 1 | 1 |
| Population record | Cohort 200 | 1 | 1 |
| Population record | Cohort 29 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 280 | 1 | 1 |
| Population record | Cohort 292 | 1 | 1 |
| Saudi Arabia | Cohort 300 | 1 | 1 |
| Population record | Cohort 128 | 1 | 1 |
| Population record | Cohort 550 | 1 | 1 |
| Population record | Cohort 185 | 1 | 1 |
| Population record | Cohort 32 | 1 | 1 |
| Saudi Arabia · Qassim | Cohort 278 | 1 | 1 |
Supporting publications
84 records- 2026Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.The American journal of case reports1 mentions
- 2025Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2025Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.Current medicinal chemistry1 mentions
- 2025A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report.Case reports in genetics1 mentions
- 2025Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.Investigative ophthalmology & visual science1 mentions
- 2025Nanovesicular Drug Delivery Systems for Rare Ocular Diseases: Advances, Challenges, and Future Directions.AAPS PharmSciTech1 mentions
- 2025Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions.Genes1 mentions
- 2025Do retinal implants provide long-term efficacy, safety and improve quality of life? A systematic review.Therapeutic advances in ophthalmology1 mentions
- 2025Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.Frontiers in ophthalmology1 mentions
- 2024Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.medRxiv : the preprint server for health sciences1 mentions
- 2024Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis.Ophthalmic genetics1 mentions
- 2024Usher syndrome in the United Arab Emirates.Ophthalmic genetics1 mentions
- 2024Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.Scientific reports1 mentions
- 2023Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.Molecular diagnosis & therapy1 mentions
- 2023Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2022Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.Gene therapy1 mentions
- 2022A COVID-19 family cluster with retinitis pigmentosa and hypogammaglobulinemia.Annals of thoracic medicine1 mentions
- 2022Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.Clinical and translational medicine1 mentions
- 2022Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.International journal of molecular sciences1 mentions
- 2022Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.Clinics and practice1 mentions
- 2022Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective.Cureus1 mentions
- 2022Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.Middle East African journal of ophthalmology1 mentions
- 2021Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.Ophthalmic genetics1 mentions
- 2021Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.Ophthalmic research1 mentions
- 2021Transplanted Erythropoietin-Expressing Mesenchymal Stem Cells Promote Pro-survival Gene Expression and Protect Photoreceptors From Sodium Iodate-Induced Cytotoxicity in a Retinal Degeneration Model.Frontiers in cell and developmental biology1 mentions
- 2021Gypenosides Alleviate Cone Cell Death in a Zebrafish Model of Retinitis Pigmentosa.Antioxidants (Basel, Switzerland)1 mentions
- 2021Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Frontiers in cell and developmental biology1 mentions
- 2021Ocular manifestations in children with developmental delay at a tertiary center in South India.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2021Argus II retinal prosthesis for retinitis pigmentosa in the Middle East: The 2015 Pan-American Association of Ophthalmology Gradle Lecture.International journal of retina and vitreous1 mentions
- 2021A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.Middle East African journal of ophthalmology1 mentions
- 2020The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.Scientific reports1 mentions
- 2020Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.Annals of clinical and translational neurology1 mentions
- 2020Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.American journal of ophthalmology case reports1 mentions
- 2020Gypenosides attenuate retinal degeneration in a zebrafish retinitis pigmentosa model.Experimental eye research1 mentions
- 2020Visual Impairment and Blindness in Saudi Arabia's School for the Blind: A Cross-Sectional Study.Clinical optometry1 mentions
- 2019Empowering Mesenchymal Stem Cells for Ocular Degenerative Disorders.International journal of molecular sciences1 mentions
- 2019Genetically-modified human mesenchymal stem cells to express erythropoietin enhances differentiation into retinal photoreceptors: An in-vitro study.Journal of photochemistry and photobiology. B, Biology1 mentions
- 2019Retinal degeneration rat model: A study on the structural and functional changes in the retina following injection of sodium iodate.Journal of photochemistry and photobiology. B, Biology1 mentions
- 2019Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review.Case reports in ophthalmological medicine1 mentions
- 2019Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.Ophthalmic genetics1 mentions
- 2018INTRAVITREAL DEXAMETHASONE IMPLANT IN RETINITIS PIGMENTOSA-RELATED CYSTOID MACULAR EDEMA.Retina (Philadelphia, Pa.)1 mentions
- 2018Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.Congenital anomalies1 mentions
- 2018Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.International journal of pediatric otorhinolaryngology1 mentions
- 2018Morphological and genetical changes of endothelial progenitor cells after in-vitro conversion into photoreceptors.Journal of photochemistry and photobiology. B, Biology1 mentions
- 2018A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.Genes & genomics1 mentions
- 2018Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.Nature communications1 mentions
- 2018Role of diagnostic factors associated with antioxidative status and expression of matrix metalloproteinases (MMPs) in patients with cancer therapy induced ocular disorders.Saudi journal of biological sciences1 mentions
- 2017A new measure for the assessment of visual awareness in individuals with tunnel vision.Clinical & experimental optometry1 mentions
- 2017Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.Medicine1 mentions
- 2017C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.Investigative ophthalmology & visual science1 mentions
- 2017A Case of Unilateral Retinitis Pigmentosa Associated with Full Thickness Macular Hole.Middle East African journal of ophthalmology1 mentions
- 2017Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.Scientific reports1 mentions
- 2016Spectral-domain optical coherence tomography reveals prelaminar membranes in optic nerve head pallor in eyes with retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie1 mentions
- 2016Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2016Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.Human genetics1 mentions
- 2016C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.Ophthalmic genetics1 mentions
- 2016Validity and cost-effectiveness of cone adaptation test as a screening tool to detect retinitis pigmentosa.Oman journal of ophthalmology1 mentions
- 2016In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration.Nature1 mentions
- 2016Bilateral retinitis pigmentosa with unilateral choroidal nevus: A hitherto unreported association.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2015Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.Ophthalmic genetics1 mentions
- 2015Effect of Stimulus Waveform of Biphasic Current Pulse on Retinal Ganglion Cell Responses in Retinal Degeneration (rd1) mice.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology1 mentions
- 2015Nystagmus in laurence-moon-biedl syndrome.Case reports in ophthalmological medicine1 mentions
- 2015An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.Nature cell biology1 mentions
- 2015A Retrospective Study of Causes of Low Vision in Saud Arabia, A Case of Eye World Medical Complex in Riyadh.Global journal of health science1 mentions
- 2015Spontaneous Oscillatory Rhythms in the Degenerating Mouse Retina Modulate Retinal Ganglion Cell Responses to Electrical Stimulation.Frontiers in cellular neuroscience1 mentions
- 2014Retinal repair with induced pluripotent stem cells.Translational research : the journal of laboratory and clinical medicine1 mentions
- 2014Peripheral ulcerative keratitis: Our challenging experience.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2013Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes.Diabetes care1 mentions
- 2013The RPGRIP1-related retinal phenotype in children.The British journal of ophthalmology1 mentions
- 2013The gene therapy revolution in ophthalmology.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2012RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.The British journal of ophthalmology1 mentions
- 2012In search of triallelism in Bardet-Biedl syndrome.European journal of human genetics : EJHG1 mentions
- 2012USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.Molecular vision1 mentions
- 2012In vivo confocal microscopy of corneal endothelium in patients with retinitis pigmentosa.Saudi medical journal1 mentions
- 2010Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.Journal of medical genetics1 mentions
- 2010Combined occurrence of diabetes mellitus and retinitis pigmentosa.Annals of Saudi medicine1 mentions
- 2010Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.Molecular vision1 mentions
- 2009Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.American journal of human genetics1 mentions
- 2009Importance of ophthalmological examination in children with congenital sensorineural hearing loss.Saudi medical journal1 mentions
- 2009Molecular characterization of retinitis pigmentosa in Saudi Arabia.Molecular vision1 mentions
- 2006Drug evaluation: PTC-124--a potential treatment of cystic fibrosis and Duchenne muscular dystrophy.IDrugs : the investigational drugs journal1 mentions
- 2001Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.Clinical genetics1 mentions
- 1996Causes of blindness in Irbid, Jordan.Annals of Saudi medicine1 mentions
- 19944-Hydroxybutyric aciduria.Brain & development1 mentions