ZNF454

Summary

ZNF454 (zinc finger protein 454, HGNC:21200) is a protein-coding gene on chromosome 5q35.3, encoding Zinc finger protein 454 (Q8N9F8). May be involved in transcriptional regulation.

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 285676 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 130 total — 5 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001178089

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21200
Approved symbol	ZNF454
Name	zinc finger protein 454
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ37444
Ensembl gene	ENSG00000178187
Ensembl biotype	protein_coding
Entrez	285676

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000320129, ENST00000519564, ENST00000522827, ENST00000867506, ENST00000867507, ENST00000867508, ENST00000867509, ENST00000939981, ENST00000971900

RefSeq mRNA: 8 — MANE Select: NM_001178089 NM_001178089, NM_001178090, NM_001323306, NM_001323307, NM_001323308, NM_001323309, NM_001323310, NM_182594

CCDS: CCDS4441

Canonical transcript exons

ENST00000519564 — 5 exons

Exon	Start	End
ENSE00001260708	178964655	178966433
ENSE00001260718	178942685	178942824
ENSE00002094094	178941198	178941444
ENSE00003464215	178946897	178946986
ENSE00003682554	178946359	178946485

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 82.68.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6520 / max 108.5483, expressed in 651 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60534	2.6520	651

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.34	gold quality
cortical plate	UBERON:0005343	77.25	gold quality
ganglionic eminence	UBERON:0004023	74.71	gold quality
ventricular zone	UBERON:0003053	73.10	gold quality
islet of Langerhans	UBERON:0000006	68.31	gold quality
smooth muscle tissue	UBERON:0001135	67.91	gold quality
endometrium	UBERON:0001295	67.74	gold quality
prefrontal cortex	UBERON:0000451	65.56	gold quality
superior frontal gyrus	UBERON:0002661	64.76	gold quality
urinary bladder	UBERON:0001255	64.26	gold quality
pituitary gland	UBERON:0000007	64.13	gold quality
adenohypophysis	UBERON:0002196	63.92	gold quality
right ovary	UBERON:0002118	63.54	gold quality
ovary	UBERON:0000992	63.03	gold quality
myometrium	UBERON:0001296	62.85	gold quality
descending thoracic aorta	UBERON:0002345	62.57	gold quality
primary visual cortex	UBERON:0002436	62.46	gold quality
fallopian tube	UBERON:0003889	62.40	gold quality
body of uterus	UBERON:0009853	62.35	gold quality
stromal cell of endometrium	CL:0002255	62.27	gold quality
left ovary	UBERON:0002119	62.12	gold quality
pancreas	UBERON:0001264	62.05	gold quality
frontal cortex	UBERON:0001870	62.03	gold quality
cerebellum	UBERON:0002037	61.95	gold quality
cerebellar cortex	UBERON:0002129	61.86	gold quality
cerebellar hemisphere	UBERON:0002245	61.68	gold quality
corpus callosum	UBERON:0002336	61.57	gold quality
uterine cervix	UBERON:0000002	61.40	gold quality
left coronary artery	UBERON:0001626	61.04	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-CURD-10	no	10.01
E-ANND-3	no	2.50

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1712.1	ZNF454	More than 3 adjacent zinc fingers
MA1712.2	ZNF454	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:27852650

miRNA regulators (miRDB)

10 targeting ZNF454, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-1285-5P	98.01	68.71	779
HSA-MIR-3620-3P	97.78	64.88	772
HSA-MIR-517-5P	97.13	68.43	781
HSA-MIR-4264	96.35	64.76	1480

Literature-anchored findings (GeneRIF, showing 1)

• Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma. (PMID:32016477)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp454	ENSMUSG00000048728
rattus_norvegicus	Zfp454	ENSRNOG00000081437

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)

Protein

Protein identifiers

Zinc finger protein 454 — Q8N9F8 (reviewed: Q8N9F8)

All UniProt accessions (1): Q8N9F8

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

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

RefSeq proteins (8): NP_001171560, NP_001171561, NP_001310235, NP_001310236, NP_001310237, NP_001310238, NP_001310239, NP_872400 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF01352

UniProt features (17 total): zinc finger region 12, sequence variant 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9F8-F1	73.66	0.50

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway
R-HSA-9843940	Regulation of endogenous retroelements by KRAB-ZFP proteins

MSigDB gene sets: 67 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, AACYNNNNTTCCS_UNKNOWN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, HATADA_METHYLATED_IN_LUNG_CANCER_UP, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, FIGUEROA_AML_METHYLATION_CLUSTER_6_UP, ZWANG_DOWN_BY_2ND_EGF_PULSE, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZIM3_TARGET_GENES, MIR607, MIR616_5P, MIR371B_5P, MIR373_5P

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), double-stranded DNA binding (GO:0003690), metal ion binding (GO:0046872)

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

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RNA Polymerase II Transcription	1
Regulation of endogenous retroelements	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
DNA binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF454	SOWAHC	Q53LP3	507
ZNF454	CCDC181	Q5TID7	432
ZNF454	NRIP2	Q9BQI9	432
ZNF454	AK1	P00568	416
ZNF454	KANK4	Q5T7N3	374
ZNF454	TMEM179	Q6ZVK1	366
ZNF454	EDRF1	Q3B7T1	358
ZNF454	KCNAB3	O43448	357
ZNF454	POC1A	Q8NBT0	356
ZNF454	MSH6	P52701	353
ZNF454	MSH3	P20585	353
ZNF454	EPHB2	P29323	353
ZNF454	CCDC184	Q52MB2	352
ZNF454	ITPRIPL1	Q6GPH6	350
ZNF454	PCDHGB3	Q9Y5G1	348

IntAct

0 interactions, top by confidence:

BioGRID (4): ZNF454 (Co-fractionation), ZNF454 (Co-fractionation), ZNF454 (Co-fractionation), ZNF454 (Co-fractionation)

ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A6QLU5, B2RUI1, D3ZVT0, O14709, O43296, O75123, P10072, P15621, P17020, P17097, P51814, P85977, Q08ER8, Q0VGE8, Q14590, Q32KN0, Q3KQV3, Q4V8A8, Q5CZA5, Q5RBX0, Q5RCD9, Q5VIY5, Q61116, Q61967, Q6GQR8, Q6P9A3, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q86UD4, Q86WZ6, Q8BFS8, Q8IZ26, Q8N9F8, Q8TAF7

Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	85
Likely benign	15
Benign	9

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1076564	NM_000843.4(GRM6):c.2088del (p.Gln697fs)	Pathogenic
2023133	NM_000843.4(GRM6):c.1327C>T (p.Gln443Ter)	Pathogenic
2979192	NM_000843.4(GRM6):c.1185C>A (p.Tyr395Ter)	Pathogenic
5842	NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)	Pathogenic
636219	NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro)	Pathogenic
3065763	NM_000843.4(GRM6):c.2236_2237del (p.Met746fs)	Likely pathogenic
3377670	NM_000843.4(GRM6):c.2560C>T (p.Arg854Ter)	Likely pathogenic

SpliceAI

1015 predictions. Top by Δscore:

Variant	Effect	Δscore
5:178941328:G:GT	donor_gain	1.0000
5:178942822:CAGGT:C	donor_loss	1.0000
5:178942823:AGG:A	donor_loss	1.0000
5:178942825:G:C	donor_loss	1.0000
5:178942826:T:A	donor_loss	1.0000
5:178946354:TGCAG:T	acceptor_loss	1.0000
5:178946355:GCAG:G	acceptor_loss	1.0000
5:178946356:CA:C	acceptor_loss	1.0000
5:178946357:AGGAA:A	acceptor_loss	1.0000
5:178946358:G:A	acceptor_loss	1.0000
5:178946481:ACTGG:A	donor_gain	1.0000
5:178946482:CTGG:C	donor_gain	1.0000
5:178946483:TGGGT:T	donor_loss	1.0000
5:178946484:GG:G	donor_gain	1.0000
5:178946485:GG:G	donor_gain	1.0000
5:178946485:GGT:G	donor_loss	1.0000
5:178946486:G:GG	donor_gain	1.0000
5:178946486:GT:G	donor_loss	1.0000
5:178946487:T:A	donor_loss	1.0000
5:178941314:TCA:T	donor_gain	0.9900
5:178941343:T:TA	donor_gain	0.9900
5:178941384:G:GT	donor_gain	0.9900
5:178941442:A:T	donor_gain	0.9900
5:178941445:G:GG	donor_gain	0.9900
5:178946357:A:AG	acceptor_gain	0.9900
5:178946357:AG:A	acceptor_gain	0.9900
5:178946358:G:GG	acceptor_gain	0.9900
5:178946358:GG:G	acceptor_gain	0.9900
5:178946358:GGA:G	acceptor_gain	0.9900
5:178946483:TGG:T	donor_gain	0.9900

AlphaMissense

3522 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:178965245:T:C	F281L	0.999
5:178965247:T:A	F281L	0.999
5:178965247:T:G	F281L	0.999
5:178965252:G:C	R283P	0.999
5:178965329:T:C	F309L	0.999
5:178965331:T:A	F309L	0.999
5:178965331:T:G	F309L	0.999
5:178965348:T:C	L315P	0.999
5:178965413:T:C	F337L	0.999
5:178965415:T:A	F337L	0.999
5:178965415:T:G	F337L	0.999
5:178965497:T:C	F365L	0.999
5:178965499:C:A	F365L	0.999
5:178965499:C:G	F365L	0.999
5:178965581:T:C	F393L	0.999
5:178965583:C:A	F393L	0.999
5:178965583:C:G	F393L	0.999
5:178965665:T:C	F421L	0.999
5:178965667:T:A	F421L	0.999
5:178965667:T:G	F421L	0.999
5:178965749:T:C	F449L	0.999
5:178965751:C:A	F449L	0.999
5:178965751:C:G	F449L	0.999
5:178965917:T:C	F505L	0.999
5:178965919:T:A	F505L	0.999
5:178965919:T:G	F505L	0.999
5:178965077:T:C	F225L	0.998
5:178965079:T:A	F225L	0.998
5:178965079:T:G	F225L	0.998
5:178965161:T:C	F253L	0.998

dbSNP variants (sampled 300 via entrez): RS1000110331 (5:178961476 T>G), RS1000130760 (5:178943240 C>T), RS1000142881 (5:178961660 CA>C,CAA), RS1000356748 (5:178966210 G>A), RS1000453003 (5:178955148 A>G), RS1000572684 (5:178972928 C>T), RS1000585564 (5:178980133 A>C), RS1000642849 (5:178971426 C>T), RS1000690897 (5:178984653 T>C), RS1000691515 (5:178967419 G>A,T), RS1000744925 (5:178967690 G>A,T), RS1000919832 (5:178955552 T>C), RS1001007042 (5:178973236 G>C,T), RS1001115272 (5:178952268 A>C), RS1001149860 (5:178963506 G>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:257270, MIM:310500

GenCC curated gene-disease

Mondo (3): congenital stationary night blindness 1B (MONDO:0009758), inherited retinal dystrophy (MONDO:0019118), congenital stationary night blindness (MONDO:0016293)

Orphanet (2): Congenital stationary night blindness (Orphanet:215), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000556	Retinal dystrophy

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002711_5	Sleep duration	3.000000e-06
GCST010002_45	Refractive error	9.000000e-17

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658
C536122	Night blindness, congenital stationary (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
arsenite	affects methylation, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Diazinon	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
NCT05976139	Not specified	RECRUITING	Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
NCT06162585	Not specified	ACTIVE_NOT_RECRUITING	Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
NCT06177977	Not specified	RECRUITING	SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06908161	Not specified	NOT_YET_RECRUITING	Functional Assessments in Vision Impairment
NCT07085533	Not specified	RECRUITING	Natural History Study of Inherited Retinal Diseases
NCT07502664	Not specified	RECRUITING	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
NCT07529041	Not specified	ENROLLING_BY_INVITATION	Real-time Acoustic Biofeedback for Enhancing Fixation Stability: A Proof-of-concept Study to Improve Ophthalmic Imaging Diagnostic Quality
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry