ZNF513

gene
On this page

Also known as FLJ32203RP58Zfp513

Summary

ZNF513 (zinc finger protein 513, HGNC:26498) is a protein-coding gene on chromosome 2p23.3, encoding Zinc finger protein 513 (Q8N8E2). Transcriptional regulator that plays a role in retinal development and maintenance.

The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 130557 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): retinitis pigmentosa 58 (Moderate, GenCC) — +1 more curated relationship
  • GWAS associations: 4
  • Clinical variants (ClinVar): 473 total — 1 pathogenic, 1 likely-pathogenic
  • Phenotypes (HPO): 37
  • MANE Select transcript: NM_144631

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26498
Approved symbolZNF513
Namezinc finger protein 513
Location2p23.3
Locus typegene with protein product
StatusApproved
AliasesFLJ32203, RP58, Zfp513
Ensembl geneENSG00000163795
Ensembl biotypeprotein_coding
OMIM613598
Entrez130557

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000323703, ENST00000407879, ENST00000436006, ENST00000491924, ENST00000917778

RefSeq mRNA: 2 — MANE Select: NM_144631 NM_001201459, NM_144631

CCDS: CCDS1751, CCDS56114

Canonical transcript exons

ENST00000323703 — 4 exons

ExonStartEnd
ENSE000010783342737846727379054
ENSE000013338242738047227380734
ENSE000015496632737723527378371
ENSE000036418262738009327380248

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 90.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8216 / max 50.0734, expressed in 1498 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
274933.82161498

Top tissues by expression

249 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right testisUBERON:000453490.87gold quality
left testisUBERON:000453390.54gold quality
adenohypophysisUBERON:000219690.06gold quality
granulocyteCL:000009489.40gold quality
lower esophagus mucosaUBERON:003583489.15gold quality
mucosa of transverse colonUBERON:000499188.75gold quality
right lobe of liverUBERON:000111488.72gold quality
body of stomachUBERON:000116188.38gold quality
metanephros cortexUBERON:001053388.36gold quality
pituitary glandUBERON:000000788.28gold quality
oocyteCL:000002387.63gold quality
transverse colonUBERON:000115787.59gold quality
cortical plateUBERON:000534387.31gold quality
testisUBERON:000047387.25gold quality
right adrenal gland cortexUBERON:003582787.15gold quality
right lobe of thyroid glandUBERON:000111987.13gold quality
left adrenal gland cortexUBERON:003582587.06gold quality
small intestine Peyer’s patchUBERON:000345487.04gold quality
right adrenal glandUBERON:000123386.92gold quality
mucosa of stomachUBERON:000119986.82gold quality
left lobe of thyroid glandUBERON:000112086.77gold quality
left adrenal glandUBERON:000123486.69gold quality
lower esophagus muscularis layerUBERON:003583386.61gold quality
lower esophagusUBERON:001347386.60gold quality
esophagogastric junction muscularis propriaUBERON:003584186.51gold quality
right frontal lobeUBERON:000281086.33gold quality
right hemisphere of cerebellumUBERON:001489086.33gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099186.06gold quality
adrenal cortexUBERON:000123586.01gold quality
prefrontal cortexUBERON:000045185.99gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no2.14

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

TargetRegulation
ARR3

miRNA regulators (miRDB)

27 targeting ZNF513, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-340-5P100.0072.504437
HSA-MIR-3689D100.0066.141181
HSA-MIR-6851-5P100.0065.631294
HSA-MIR-3163100.0077.238605
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-7152-3P99.9767.47849
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-427199.8868.322244
HSA-MIR-442299.7272.072908
HSA-MIR-142-5P99.4870.922416
HSA-MIR-5590-3P99.4870.912429
HSA-MIR-122B-5P99.4670.811457
HSA-MIR-391199.3866.951087
HSA-MIR-361-3P99.1966.451381
HSA-MIR-331-3P98.7664.91793
HSA-MIR-6878-5P98.4967.912142
HSA-MIR-1304-3P98.2966.441207
HSA-MIR-33B-3P97.9267.39529
HSA-MIR-515-3P97.9267.98506
HSA-MIR-519E-3P97.9268.25508
HSA-MIR-7847-3P96.6364.58952
HSA-MIR-7160-3P96.4064.15462

Literature-anchored findings (GeneRIF, showing 2)

  • These results suggest that the ZNF513 p.C339R mutation is responsible for retinitis pigmentosa and that ZNF513 plays a key role in the regulation of photoreceptor-specific genes in retinal development and photoreceptor maintenance. (PMID:20797688)
  • Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. (PMID:37752101)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_rerioznf513aENSDARG00000019961
danio_rerioznf513bENSDARG00000101203
mus_musculusZfp513ENSMUSG00000043059
rattus_norvegicusZfp513ENSRNOG00000005298
drosophila_melanogasterdwgFBGN0000520
drosophila_melanogasterCG6654FBGN0038301
caenorhabditis_elegansWBGENE00003933

Paralogs (6): ZNF324 (ENSG00000083812), ZBTB47 (ENSG00000114853), GTF3A (ENSG00000122034), ZUP1 (ENSG00000153975), ZNF652 (ENSG00000198740), ZNF324B (ENSG00000249471)

Protein

Protein identifiers

Zinc finger protein 513Q8N8E2 (reviewed: Q8N8E2)

All UniProt accessions (2): C9JT52, Q8N8E2

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional regulator that plays a role in retinal development and maintenance.

Subunit / interactions. Binds DNA. Can associate with the proximal promoter regions of PAX6 and SP4, and their known targets including ARR3, RHO, OPN1MW2 and OPN1SW.

Subcellular location. Nucleus.

Tissue specificity. In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer.

Disease relevance. Retinitis pigmentosa 58 (RP58) [MIM:613617] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (3)

UniProt IDNamesCanonical?
Q8N8E2-11yes
Q8N8E2-22
Q8N8E2-33

RefSeq proteins (2): NP_001188388, NP_653232* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily

Pfam: PF00096

UniProt features (21 total): zinc finger region 8, sequence conflict 3, region of interest 2, compositionally biased region 2, modified residue 2, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N8E2-F160.200.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 85, 96

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 147 (showing top): LFA1_Q6, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, SRF_Q5_01, CATRRAGC_UNKNOWN, SRF_C, GGAANCGGAANY_UNKNOWN, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, HEN1_01, GRE_C, LXR_Q3, GOBP_SENSORY_PERCEPTION, VDR_Q3, GOBP_SENSORY_ORGAN_DEVELOPMENT, CCAGGGG_MIR331

GO Biological Process (3): visual perception (GO:0007601), positive regulation of transcription by RNA polymerase II (GO:0045944), retina development in camera-type eye (GO:0060041)

GO Molecular Function (5): transcription cis-regulatory region binding (GO:0000976), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
sensory perception of light stimulus1
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
positive regulation of DNA-templated transcription1
camera-type eye development1
anatomical structure development1
transcription regulatory region nucleic acid binding1
sequence-specific double-stranded DNA binding1
nucleic acid binding1
transition metal ion binding1
binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

740 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF513IMPG2Q9BZV3807
ZNF513PRCDQ00LT1806
ZNF513PCAREA6NGG8801
ZNF513PDE6GP18545792
ZNF513CERKLQ49MI3780
ZNF513EYSQ5T1H1761
ZNF513FSCN2O14926751
ZNF513SNRNP200O75643749
ZNF513IDH3BO43837749
ZNF513PDE6AP16499746
ZNF513PRPF3O43395745
ZNF513PRPF31Q8WWY3742
ZNF513CNGB1Q14028738
ZNF513RP9Q8TA86738
ZNF513TTC8Q8TAM2733

IntAct

17 interactions, top by confidence:

ABTypeScore
KAT5ZNF513psi-mi:“MI:0915”(physical association)0.560
ZNF513KAT5psi-mi:“MI:0915”(physical association)0.560
ZNF513DNMT3Apsi-mi:“MI:0915”(physical association)0.560
ZNF513UQCRC1psi-mi:“MI:0915”(physical association)0.560
ZNF513RRBP1psi-mi:“MI:0915”(physical association)0.400
ZNF513ZNF513psi-mi:“MI:0915”(physical association)0.370
ZZZ3ZNF513psi-mi:“MI:0915”(physical association)0.370
ZFP64ZNF513psi-mi:“MI:0915”(physical association)0.370
ZNF513PPARGC1Bpsi-mi:“MI:0915”(physical association)0.370
SLC11A1TRAFD1psi-mi:“MI:0914”(association)0.350
DNMT3AZNF513psi-mi:“MI:0915”(physical association)0.000

BioGRID (9): ZNF513 (Two-hybrid), ZNF513 (Two-hybrid), RRBP1 (Proximity Label-MS), ZNF513 (Affinity Capture-MS), ZNF513 (Affinity Capture-RNA), ZNF513 (Two-hybrid), ZNF513 (Two-hybrid), ZNF513 (Two-hybrid), PPARGC1B (Two-hybrid)

ESM2 similar proteins: A2CE44, A6NFI3, A6NM28, A8K8V0, O15370, O70218, O95201, P0CJ78, P10075, P10754, P28698, P70338, Q04890, Q07120, Q14V87, Q19A40, Q569E7, Q58DK7, Q5DWN0, Q5FWU5, Q5RJR4, Q5T619, Q5TEC3, Q6DD87, Q6IQX8, Q6PD29, Q6PGE4, Q6ZMY9, Q7Z7K2, Q80VM4, Q8BIF9, Q8JZL0, Q8N8E2, Q8NAF0, Q8NCA9, Q8TD94, Q8WUU4, Q96C55, Q96H86, Q96MX3

Diamond homologs: Q5FWU5, Q6PD29, Q8N8E2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

473 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic1
Uncertain significance297
Likely benign144
Benign2

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
3248931NM_144631.6(ZNF513):c.423dup (p.Pro142fs)Pathogenic
930689NM_144631.6(ZNF513):c.279_283del (p.Ala94fs)Likely pathogenic

SpliceAI

985 predictions. Top by Δscore:

VariantEffectΔscore
2:27378780:CGAG:Cacceptor_gain1.0000
2:27378781:G:Tacceptor_gain1.0000
2:27378783:G:GCacceptor_gain1.0000
2:27378792:C:CTacceptor_gain1.0000
2:27378794:C:CTacceptor_gain1.0000
2:27380088:CCCA:Cdonor_loss1.0000
2:27380089:CCA:Cdonor_loss1.0000
2:27380090:CACCT:Cdonor_loss1.0000
2:27380091:A:AGdonor_loss1.0000
2:27380091:ACCTT:Adonor_gain1.0000
2:27380092:CCTTC:Cdonor_gain1.0000
2:27380095:T:Adonor_gain1.0000
2:27380249:C:CCacceptor_gain1.0000
2:27380480:C:CAdonor_gain1.0000
2:27380514:T:TAdonor_gain1.0000
2:27378783:G:Cacceptor_gain0.9900
2:27378786:G:Cacceptor_gain0.9900
2:27378786:G:GCacceptor_gain0.9900
2:27378795:G:Tacceptor_gain0.9900
2:27378799:G:GCacceptor_gain0.9900
2:27378964:A:Cdonor_gain0.9900
2:27379054:CCTGG:Cacceptor_gain0.9900
2:27380091:A:ACdonor_gain0.9900
2:27380092:C:CCdonor_gain0.9900
2:27380092:CCTT:Cdonor_gain0.9900
2:27380245:TCCA:Tacceptor_gain0.9900
2:27380246:CCA:Cacceptor_gain0.9900
2:27380246:CCAC:Cacceptor_gain0.9900
2:27380247:CA:Cacceptor_gain0.9900
2:27380247:CAC:Cacceptor_gain0.9900

AlphaMissense

3493 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:27377703:G:CH490D1.000
2:27377751:A:GC474R1.000
2:27377773:G:CH466Q1.000
2:27377773:G:TH466Q1.000
2:27377785:G:CH462Q1.000
2:27377785:G:TH462Q1.000
2:27377787:G:CH462D1.000
2:27377787:G:TH462N1.000
2:27377795:A:GL459P1.000
2:27377797:G:CN458K1.000
2:27377797:G:TN458K1.000
2:27377814:A:GC453R1.000
2:27377835:A:GC446R1.000
2:27377839:A:CF444L1.000
2:27377839:A:TF444L1.000
2:27377841:A:GF444L1.000
2:27377871:G:CH434D1.000
2:27377871:G:TH434N1.000
2:27377879:A:GL431P1.000
2:27377881:G:CN430K1.000
2:27377881:G:TN430K1.000
2:27377919:A:GC418R1.000
2:27377955:G:CH406D1.000
2:27377955:G:TH406N1.000
2:27377965:G:CN402K1.000
2:27377965:G:TN402K1.000
2:27378039:G:CH378D1.000
2:27377701:G:CH490Q0.999
2:27377701:G:TH490Q0.999
2:27377703:G:TH490N0.999

dbSNP variants (sampled 300 via entrez): RS1000337026 (2:27379508 G>A), RS1000959532 (2:27380591 G>A,C), RS1001343740 (2:27378379 G>A,C), RS1002035250 (2:27380549 CGCCTCCG>C), RS1003013705 (2:27379068 CATA>C), RS1003046380 (2:27379281 T>A), RS1003249202 (2:27381072 C>A,G), RS1003497741 (2:27381359 A>G), RS1004503387 (2:27377381 C>G,T), RS1005000807 (2:27381099 C>A,G,T), RS1005858970 (2:27380570 C>T), RS1005911394 (2:27380335 T>G), RS1006911209 (2:27379139 C>T), RS1007269814 (2:27379458 T>C), RS1008917601 (2:27377152 C>G)

Disease associations

OMIM: gene MIM:613598 | disease phenotypes: MIM:613617, MIM:268000

GenCC curated gene-disease

DiseaseClassificationInheritance
retinitis pigmentosa 58ModerateAutosomal recessive
retinitis pigmentosaSupportiveAutosomal dominant

Mondo (4): retinitis pigmentosa 58 (MONDO:0013328), inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200), optic atrophy (MONDO:0003608)

Orphanet (2): Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

37 total (30 of 37 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000510Rod-cone dystrophy
HP:0000512Abnormal electroretinogram
HP:0000543Optic disc pallor
HP:0000546Retinal degeneration
HP:0000551Color vision defect
HP:0000563Keratoconus
HP:0000602Ophthalmoplegia
HP:0000608Macular degeneration
HP:0000613Photophobia
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000662Nyctalopia
HP:0000842Hyperinsulinemia
HP:0001105Retinal atrophy
HP:0001141Severely reduced visual acuity
HP:0003621Juvenile onset
HP:0007663Reduced visual acuity
HP:0007675Progressive night blindness
HP:0007703Abnormal retinal pigmentation
HP:0007737Spicular pigmentation of the retina
HP:0007787Posterior subcapsular cataract
HP:0007843Attenuation of retinal blood vessels
HP:0007994Peripheral visual field loss
HP:0008046Abnormal retinal vascular morphology

GWAS associations

4 associations (top):

StudyTraitp-value
GCST004131_72Inflammatory bowel disease1.000000e-07
GCST004132_64Crohn’s disease6.000000e-11
GCST010107_9L-selectin levels5.000000e-06
GCST010134_1Non-oily fish consumption9.000000e-09

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0008202L-Selectin measurement
EFO:0008111diet measurement

MeSH disease descriptors (3)

DescriptorNameTree numbers
D009896Optic AtrophyC10.292.700.225; C11.640.451
D058499Retinal DystrophiesC11.768.585.658
D012174Retinitis PigmentosaC11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression4
Cyclosporinedecreases expression, increases expression2
aristolochic acid Iincreases expression1
GSK-J4decreases expression1
FR900359increases phosphorylation1
TAK-243increases sumoylation1
triphenyl phosphateaffects expression1
beta-lapachoneincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
butyraldehydedecreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrineincreases expression1
dorsomorphindecreases expression, affects cotreatment1
Sunitinibdecreases expression1
Vehicle Emissionsdecreases expression, increases abundance1
Benzo(a)pyreneincreases expression1
Caffeineincreases phosphorylation1
Doxorubicindecreases expression1
Quercetinincreases expression1
Smokedecreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoinincreases expression1
Acrylamideincreases expression1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

259 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00717080PHASE4COMPLETEDThe Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114PHASE3COMPLETEDRandomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116PHASE3COMPLETEDRandomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333PHASE3COMPLETEDClinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395PHASE3TERMINATEDPhase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207PHASE3COMPLETEDManagement of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853PHASE3COMPLETEDCB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220PHASE3ACTIVE_NOT_RECRUITINGOral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301PHASE3COMPLETEDManagement of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583PHASE3ACTIVE_NOT_RECRUITINGA Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855PHASE3NOT_YET_RECRUITINGA Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530PHASE3NOT_YET_RECRUITING24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230PHASE2COMPLETEDDHA and X-Linked Retinitis Pigmentosa
NCT00447980PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609PHASE2COMPLETEDTrial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515PHASE2COMPLETEDEfficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659PHASE2COMPLETEDRetinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715PHASE2COMPLETEDAutologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165PHASE2COMPLETEDNerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711PHASE2COMPLETEDAflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360PHASE2UNKNOWNIntravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640PHASE2UNKNOWNStudying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733PHASE2COMPLETEDSafety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207PHASE2COMPLETEDMinocycline Treatment in Retinitis Pigmentosa
NCT04356716PHASE2COMPLETEDSildenafil for Treatment of Choroidal Ischemia
NCT04604899PHASE2COMPLETEDSafety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369PHASE2UNKNOWNInvestigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496PHASE2UNKNOWNEffects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772PHASE2COMPLETEDEfficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964PHASE2TERMINATEDAn Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179PHASE2COMPLETEDA Study in Subjects With Retinitis Pigmentosa
NCT06627179PHASE2RECRUITINGStudy to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947PHASE2RECRUITINGA Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633PHASE2RECRUITINGSafety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT03763227PHASE2COMPLETEDIntravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
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