SVSaudiVarKBSaudi Variant Knowledge Base
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Phenotype profile

retinal dystrophy

HP:0000556 · SaudiVarKB evidence summary derived from retained literature mentions.

120Phenotype mentions
100Publications
50Associated gene records
50Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
CRB1HGNC:234366
RPE65HGNC:1029466
GUCY2DHGNC:468944
RPGRHGNC:1029544
IFT140HGNC:2907733
TULP1HGNC:1242333
RPGRIP1HGNC:1343633
ERGHGNC:344633
ALMS1HGNC:42833
RDH12HGNC:1997733
MRPL49HGNC:117622
USH2AHGNC:1260122
MYO7AHGNC:760622
CLRN1HGNC:1260522
ACBD5HGNC:2333822
CNGB1HGNC:215122
RIMS2HGNC:1728322
ABCA4HGNC:3422
MERTKHGNC:702722
CERKLHGNC:2169922
CNGA3HGNC:215011
ATF6HGNC:79111
PEX6HGNC:885911
PEX1HGNC:885011
IQCB1HGNC:2894911
MAN2B1HGNC:682611
ADGRV1HGNC:1741611
ARL6HGNC:1321011
TYMSHGNC:1244111
STK25HGNC:1140411
RP1L1HGNC:1594611
LEMD2HGNC:2124411
SNAP91HGNC:1498611
SLC4A4HGNC:1103011
PRPF8HGNC:1734011
ALPK1HGNC:2091711
STX3HGNC:1143811
CLN5HGNC:207611
TRPM1HGNC:714611
CABP4HGNC:138611
RDH5HGNC:994011
RP1HGNC:1026311
EMC1HGNC:2895711
KCNV2HGNC:1969811
RS1HGNC:1045711
ARMC9HGNC:2073011
NGFHGNC:780811
DHDDSHGNC:2060311
PDE6BHGNC:878611
B9D2HGNC:2863611

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
c.1990G>Ac.1990G>A22
p.Glu664Lysp.Glu664Lys22
p.Gly1961Glup.Gly1961Glu22
p.Val97Glyp.Val97Gly11
V97GV97G11
c.1525-1G>Ac.1525-1G>A11
c.710C>Tc.710C>T11
p.Thr237Metp.Thr237Met11
c.415T>Cc.415T>C11
p.Phe139Leup.Phe139Leu11
c.2394delCc.2394delC11
c.1394T>Ac.1394T>A11
p.Met465Lysp.Met465Lys11
p.Leu857Prop.Leu857Pro11
p.Glu143*p.Glu143*11
c.52+3A>Gc.52+3A>G11
p.Ser201Phep.Ser201Phe11
C.1429G>AC.1429G>A11
p.Gly477Argp.Gly477Arg11
p.Ala1773Valp.Ala1773Val11
c.5461-10T>Cc.5461-10T>C11
p.Tyr249Cysp.Tyr249Cys11
p.Gly484Aspp.Gly484Asp11
p.Lys706Terp.Lys706Ter11
p.Lys42Glup.Lys42Glu11
p.Met323Valp.Met323Val11
p.Phe252Serp.Phe252Ser11
p.Arg121Hisp.Arg121His11
p.Gly3142Terp.Gly3142Ter11
p.Cys3294Trpp.Cys3294Trp11
p.Gln652Terp.Gln652Ter11
p.Thr206Alap.Thr206Ala11
c.529C>Tc.529C>T11
p.Arg177Trpp.Arg177Trp11
c.1541_1542delinsAAc.1541_1542delinsAA11
p.Ile120Thrp.Ile120Thr11
p.Gln301*p.Gln301*11
c.901C>Tc.901C>T11
p.Cys27Phep.Cys27Phe11
c.8158C>Tc.8158C>T11
p.R2720Xp.R2720X11
C.848dupAC.848dupA11
C.11870-2A>TC.11870-2A>T11
c.1007delAc.1007delA11
c.3134delc.3134del11
p.Arg125Trpp.Arg125Trp11
c.730-22_730-19dupc.730-22_730-19dup11
p.Pro429Leup.Pro429Leu11
m.3243A>Gm.3243A>G11
p.Arg234Hisp.Arg234His11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia—66
Saudi Arabia—55
Population record—33
Population recordCohort 1022
Population recordCohort 1122
Population recordCohort 2311
Population recordCohort 2311
Saudi Arabia · Riyadh—11
Population recordCohort 211
Population recordCohort 1211
Population recordCohort 2611
Population recordCohort 18711
Saudi ArabiaCohort 311
Saudi ArabiaCohort 1311
Population recordCohort 411
Saudi ArabiaCohort 1511
Population recordCohort 3411
Population recordCohort 15011
Saudi ArabiaCohort 4211
Population recordCohort 1111
Population recordCohort 2,00011
Population recordCohort 79811
Population recordCohort 13711
Population recordCohort 20011
Population recordCohort 21211
Saudi ArabiaCohort 20011
Population recordCohort 44011
Population recordCohort 3711
Saudi Arabia · RiyadhCohort 21711
Saudi Arabia · Eastern ProvinceCohort 81811

Supporting publications

100 records
  1. 2026Lutein and Zeaxanthin: Source, Extraction, Stability, Bioactivity, and Functional Food Applications.Current pharmaceutical biotechnology1 mentions
  2. 2026Hydrogen sulfide in ocular physiology and pathology: molecular Mechanisms, therapeutic Paradoxes, and delivery challenges.Molecular biology reports1 mentions
  3. 2026Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.Genes1 mentions
  4. 2026Nanoparticle-mediated targeted delivery of lutein for retinal protection: emerging strategies in ocular drug targeting.Naunyn-Schmiedeberg's archives of pharmacology1 mentions
  5. 2026Fluorinated Oxazolidine Derivative RS-10 Ameliorates Hyperglycemic Conditions and Restores Visual Function in an In Vivo Zebrafish Diabetic Retinopathy Model.Current eye research1 mentions
  6. 2026Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report.Case reports in ophthalmology1 mentions
  7. 2025Priming and release of cytokine IL-1β in microglial cells from the retina.Experimental eye research1 mentions
  8. 2025Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.American journal of human genetics1 mentions
  9. 2025Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.Investigative ophthalmology & visual science1 mentions
  10. 2025Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.Journal of multidisciplinary healthcare1 mentions
  11. 2025Ocular manifestations of trisomy 8 mosaicim: a rare case report.Ophthalmic genetics1 mentions
  12. 2025Gene Therapy in Rare Genetic Disorders: Current Progress and Future Perspectives.Current genomics1 mentions
  13. 2025Clinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
  14. 2025Tempol Mitigates Cisplatin-Induced Retinopathy by Modulating ER Stress, Enhancing Autophagy, and Preserving Neurotrophic Support.Molecular neurobiology1 mentions
  15. 2024Retinal Alterations Predict Early Prodromal Signs of Neurodegenerative Disease.International journal of molecular sciences1 mentions
  16. 2024Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.Clinical genetics1 mentions
  17. 2024Usher syndrome in the United Arab Emirates.Ophthalmic genetics1 mentions
  18. 2024Mesenchymal stem cell therapy in veterinary ophthalmology: clinical evidence and prospects.Veterinary research communications1 mentions
  19. 2024Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus.Radiology case reports1 mentions
  20. 2024Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
  21. 2024Histamine H3 receptor antagonist/nitric oxide donors as novel promising therapeutic hybrid-tools for glaucoma and retinal neuroprotection.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie1 mentions
  22. 2024Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.medRxiv : the preprint server for health sciences1 mentions
  23. 2023ROSAH syndrome mimicking chronic uveitis.Clinical genetics1 mentions
  24. 2023Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.American journal of medical genetics. Part A1 mentions
  25. 2023Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.Molecular diagnosis & therapy1 mentions
  26. 2023Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS1 mentions
  27. 2023CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.Ophthalmology. Retina1 mentions
  28. 2023Presumed Unindicated Implantation of Posterior Chamber Phakic Intraocular Lens.The American journal of case reports1 mentions
  29. 2023αB-Crystallin Peptide Fused with Elastin-like Polypeptide: Intracellular Activity in Retinal Pigment Epithelial Cells Challenged with Oxidative Stress.Antioxidants (Basel, Switzerland)1 mentions
  30. 2023Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.Genome medicine1 mentions
  31. 2023Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
  32. 2023Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
  33. 2023Full-field electroretinography - when do we need it?Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
  34. 2023Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
  35. 2022Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.Gene therapy1 mentions
  36. 2022Rescue of photoreceptor with human mesenchyme stem cell and human mesenchyme stem cell expressing erythropoietin in total degeneration of retina animal model.Indian journal of ophthalmology1 mentions
  37. 2022A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation.Medicina (Kaunas, Lithuania)1 mentions
  38. 2022Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.Clinics and practice1 mentions
  39. 2022Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy.Archives of cardiovascular diseases1 mentions
  40. 2022Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.Middle East African journal of ophthalmology1 mentions
  41. 2021Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration.Ophthalmic genetics1 mentions
  42. 2021Human Dental Pulp Stem Cells (DPSCs) Therapy in Rescuing Photoreceptors and Establishing a Sodium Iodate-Induced Retinal Degeneration Rat Model.Tissue engineering and regenerative medicine1 mentions
  43. 2021Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.Ophthalmic genetics1 mentions
  44. 2021Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.Ophthalmic research1 mentions
  45. 2021Oxysterols and retinal degeneration.British journal of pharmacology1 mentions
  46. 2021Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.JAMA ophthalmology1 mentions
  47. 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
  48. 2021Vitamin A and Daucus carota root extract mitigate STZ-induced diabetic retinal degeneration in Wistar albino rats by modulating neurotransmission and downregulation of apoptotic pathways.Journal of food biochemistry1 mentions
  49. 2021Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.Human genetics1 mentions
  50. 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
  51. 2021Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Frontiers in cell and developmental biology1 mentions
  52. 2021Corrigendum: Transplanted 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
  53. 2020DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1.Retinal cases & brief reports1 mentions
  54. 2020PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.Retina (Philadelphia, Pa.)1 mentions
  55. 2020Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.European journal of human genetics : EJHG1 mentions
  56. 2020Looking into dental pulp stem cells in the therapy of photoreceptors and retinal degenerative disorders.Journal of photochemistry and photobiology. B, Biology1 mentions
  57. 2020Late presentation of RPE65 retinopathy in three siblings.Documenta ophthalmologica. Advances in ophthalmology1 mentions
  58. 2020Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.American journal of human genetics1 mentions
  59. 2020Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.American journal of ophthalmology case reports1 mentions
  60. 2020Macula-predominant retinopathy associated with biallelic variants in RDH12.Ophthalmic genetics1 mentions
  61. 2020Electronegative Electroretinograms in the United Arab Emirates.Middle East African journal of ophthalmology1 mentions
  62. 2020Tauroursodeoxycholic Acid Protects Retinal Pigment Epithelial Cells from Oxidative Injury and Endoplasmic Reticulum Stress In Vitro.Biomedicines1 mentions
  63. 2020Gypenosides attenuate retinal degeneration in a zebrafish retinitis pigmentosa model.Experimental eye research1 mentions
  64. 2019Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.Ophthalmic genetics1 mentions
  65. 2019Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
  66. 2019Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.American journal of ophthalmology1 mentions
  67. 2019Ocular hazards of curing light units used in dental practice - A systematic review.The Saudi dental journal1 mentions
  68. 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
  69. 2019Dental pulp stem cells therapy overcome photoreceptor cell death and protects the retina in a rat model of sodium iodate-induced retinal degeneration.Journal of photochemistry and photobiology. B, Biology1 mentions
  70. 2019Causes of blindness in a pediatric age group at a tertiary healthcare center in the eastern province of Saudi Arabia.Saudi medical journal1 mentions
  71. 2019Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.Experimental eye research1 mentions
  72. 2019Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.Molecular vision1 mentions
  73. 2019Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis.Non-coding RNA research1 mentions
  74. 2018Morphological and genetical changes of endothelial progenitor cells after in-vitro conversion into photoreceptors.Journal of photochemistry and photobiology. B, Biology1 mentions
  75. 2018A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.Genes & genomics1 mentions
  76. 2018Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
  77. 2018Human Mesenchymal Stem Cells Expressing Erythropoietin Enhance Survivability of Retinal Neurons Against Oxidative Stress: An In Vitro Study.Frontiers in cellular neuroscience1 mentions
  78. 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
  79. 2017Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.The Journal of biological chemistry1 mentions
  80. 2017Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.Physiological genomics1 mentions
  81. 2017Sirtuins Expression and Their Role in Retinal Diseases.Oxidative medicine and cellular longevity1 mentions
  82. 2017Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  83. 2017A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.Scientific reports1 mentions
  84. 2017Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.American journal of human genetics1 mentions
  85. 2017C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.Investigative ophthalmology & visual science1 mentions
  86. 2017Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.Molecular vision1 mentions
  87. 2016Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.The British journal of ophthalmology1 mentions
  88. 2016The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.The British journal of ophthalmology1 mentions
  89. 2016Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
  90. 2016C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.Ophthalmic genetics1 mentions
  91. 2016Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.Middle East African journal of ophthalmology1 mentions
  92. 2016Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.PloS one1 mentions
  93. 2016Bilateral retinal hemorrhages following finger pressure against the soft palate (الترفيع) in recessive CRB1-related retinopathy.Ophthalmic genetics1 mentions
  94. 2016In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration.Nature1 mentions
  95. 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
  96. 2015A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.The British journal of ophthalmology1 mentions
  97. 2015A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.Ophthalmic genetics1 mentions
  98. 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
  99. 2015Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.Journal of medical genetics1 mentions
  100. 2015C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.The British journal of ophthalmology1 mentions
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.