RGS9BP

Summary

RGS9BP (regulator of G protein signaling 9 binding protein, HGNC:30304) is a protein-coding gene on chromosome 19q13.11, encoding Regulator of G-protein signaling 9-binding protein (Q6ZS82). Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction.

The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia.

Source: NCBI Gene 388531 — RefSeq curated summary.

At a glance

• Gene–disease (curated): prolonged electroretinal response suppression 2 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 176 total — 3 pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_207391

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30304
Approved symbol	RGS9BP
Name	regulator of G protein signaling 9 binding protein
Location	19q13.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ45744, PERRS, R9AP
Ensembl gene	ENSG00000186326
Ensembl biotype	protein_coding
OMIM	607814
Entrez	388531

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334176

RefSeq mRNA: 1 — MANE Select: NM_207391 NM_207391

CCDS: CCDS12424

Canonical transcript exons

ENST00000334176 — 1 exons

Exon	Start	End
ENSE00001338679	32675848	32678300

Expression profiles

Bgee: expression breadth broad, 90 present calls, max score 91.81.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0089 / max 84.5287, expressed in 317 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175059	1.0089	317

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.81	silver quality
hindlimb stylopod muscle	UBERON:0004252	79.76	gold quality
gastrocnemius	UBERON:0001388	72.94	gold quality
muscle of leg	UBERON:0001383	72.64	gold quality
apex of heart	UBERON:0002098	68.31	gold quality
skeletal muscle tissue	UBERON:0001134	66.90	gold quality
pigmented layer of retina	UBERON:0001782	66.04	gold quality
muscle tissue	UBERON:0002385	63.88	gold quality
heart left ventricle	UBERON:0002084	62.14	gold quality
cardiac ventricle	UBERON:0002082	61.70	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	60.64	gold quality
heart	UBERON:0000948	54.81	gold quality
right atrium auricular region	UBERON:0006631	53.91	gold quality
heart right ventricle	UBERON:0002080	53.59	gold quality
cardiac atrium	UBERON:0002081	53.56	gold quality
prefrontal cortex	UBERON:0000451	52.63	gold quality
deltoid	UBERON:0001476	52.51	gold quality
pericardium	UBERON:0002407	52.25	gold quality
stromal cell of endometrium	CL:0002255	51.94	silver quality
cortical plate	UBERON:0005343	51.90	silver quality
upper leg skin	UBERON:0004262	50.15	silver quality
urinary bladder	UBERON:0001255	49.19	gold quality
body of tongue	UBERON:0011876	47.41	gold quality
lower esophagus mucosa	UBERON:0035834	47.34	silver quality
substantia nigra	UBERON:0002038	47.28	gold quality
frontal cortex	UBERON:0001870	47.27	gold quality
nucleus accumbens	UBERON:0001882	47.01	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	46.99	gold quality
Brodmann (1909) area 9	UBERON:0013540	46.88	gold quality
neocortex	UBERON:0001950	46.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting RGS9BP, 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-5011-5P	100.00	83.46	5820
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111

Literature-anchored findings (GeneRIF, showing 4)

• five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who report difficulty adapting to sudden changes in luminance levels mediated by cones (PMID:14702087)
• homozygous mutations in R9AP gene that encodes the photoreceptor GTPase accelerating protein and its anchor protein, respectively, have been identifird in patients with bradyopsia. (PMID:17698770)
• As the light level is increased and the PDE6* concentration in the normal rises relative to that in the observer lacking RGS9-1, the temporal advantage of the latter is soon lost, leaving only the deficit due to delayed deactivation. (PMID:18318613)
• This is the first report describing a nonsense mutation in RGS9. (PMID:19818506)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	RGS9BP	ENSDARG00000086756
mus_musculus	Rgs9bp	ENSMUSG00000056043
rattus_norvegicus	Rgs9bp	ENSRNOG00000012877
drosophila_melanogaster	CG14340	FBGN0031302
drosophila_melanogaster	dcma	FBGN0085380

Paralogs (1): RGS7BP (ENSG00000186479)

Protein

Protein identifiers

Regulator of G-protein signaling 9-binding protein — Q6ZS82 (reviewed: Q6ZS82)

Alternative names: RGS9-anchoring protein

All UniProt accessions (1): Q6ZS82

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protecting it from degradation.

Subunit / interactions. Specifically interacts with isoform RGS9-1 of RGS9. Component of the RGS9-1-Gbeta5 complex composed of RGS9-1, Gbeta5 (GNB5) and RGS9BP.

Subcellular location. Membrane.

Disease relevance. Prolonged electroretinal response suppression 2 (PERRS2) [MIM:620344] A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS2 is an autosomal recessive form with onset in childhood. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the RGS7BP/RGS9BP family.

RefSeq proteins (1): NP_997274* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026512	RGS7BP/RGS9BP	Family

UniProt features (8 total): topological domain 2, coiled-coil region 2, chain 1, transmembrane region 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZS82-F1	82.45	0.55

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2514859	Inactivation, recovery and regulation of the phototransduction cascade

MSigDB gene sets: 93 (showing top): BENPORATH_ES_WITH_H3K27ME3, PID_CONE_PATHWAY, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_RADIATION, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_DETECTION_OF_LIGHT_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, GOCC_NEURON_PROJECTION, CTAWWWATA_RSRFC4_Q2, GOBP_RESPONSE_TO_LIGHT_STIMULUS, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_CILIUM

GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), negative regulation of signal transduction (GO:0009968), detection of light stimulus involved in visual perception (GO:0050908), visual perception (GO:0007601)

GO Molecular Function (0):

GO Cellular Component (3): membrane (GO:0016020), neuron projection (GO:0043005), rod photoreceptor outer segment (GO:0120200)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
The phototransduction cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	2
G protein-coupled receptor activity	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
visual perception	1
detection of light stimulus involved in sensory perception	1
sensory perception of light stimulus	1
cellular anatomical structure	1
plasma membrane bounded cell projection	1
photoreceptor outer segment	1

Protein interactions and networks

STRING

524 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RGS9BP	GNB5	O14775	999
RGS9BP	RGS9	O75916	967
RGS9BP	RGS7BP	Q6MZT1	955
RGS9BP	RGS11	O94810	931
RGS9BP	RGS6	P49758	883
RGS9BP	RGS7	P49802	870
RGS9BP	GGT5	P36269	814
RGS9BP	GLYATL1	Q969I3	783
RGS9BP	RHO	P08100	735
RGS9BP	ROM1	Q03395	688
RGS9BP	SAG	P10523	674
RGS9BP	CACNA1B	Q00975	660
RGS9BP	CNGB3	Q9NQW8	642
RGS9BP	GRK1	Q15835	609
RGS9BP	GUCA1A	P43080	593

IntAct

2 interactions, top by confidence:

A	B	Type	Score
RGS9BP	HGS	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): RGS9BP (Affinity Capture-RNA), PRELID1 (Affinity Capture-MS), RNF115 (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), LRP10 (Affinity Capture-MS), SLC12A6 (Affinity Capture-MS), RABGEF1 (Affinity Capture-MS), NBR1 (Affinity Capture-MS), RNF149 (Affinity Capture-MS), CD320 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), FAM63A (Affinity Capture-MS), RABEP1 (Affinity Capture-MS), HGS (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Y7D0, A1L020, A2ARS0, A6NDN8, G1T8A2, O70418, O75426, P29473, P29597, P49897, P49898, P52824, P55073, P62861, P62862, P70313, P79209, Q08097, Q08DF2, Q148R9, Q1LZC5, Q28969, Q39491, Q4R327, Q566C8, Q5SPX3, Q62600, Q6DN07, Q6H5L4, Q6N063, Q6NXT1, Q6QN11, Q6ZS82, Q758T2, Q7L9B9, Q86SG2, Q8C2K5, Q8MJG0, Q8N8A6, Q8TD08

Diamond homologs: Q148R9, Q504F3, Q5M8K0, Q5XHI3, Q6GLU0, Q6GLX4, Q6XK22, Q6ZS82, Q8MJG0, Q08DH5, Q5FVH8, Q6MZT1, Q8BQP9, Q08BU8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	107
Likely benign	57
Benign	6

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
2831	NM_207391.3(RGS9BP):c.193dup (p.Arg65fs)	Pathogenic
3065332	NM_207391.3(RGS9BP):c.330_342del (p.Pro111fs)	Pathogenic
993023	NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs)	Pathogenic

SpliceAI

28 predictions. Top by Δscore:

Variant	Effect	Δscore
19:32675957:G:GT	donor_gain	0.5300
19:32676079:GAGGC:G	acceptor_gain	0.4900
19:32675993:G:GT	donor_gain	0.4800
19:32676077:CAG:C	acceptor_gain	0.3700
19:32676078:AGA:A	acceptor_gain	0.3700
19:32676079:GAG:G	acceptor_gain	0.3700
19:32676830:C:A	donor_gain	0.3500
19:32676005:G:GT	donor_gain	0.3200
19:32675977:G:GT	donor_gain	0.3100
19:32676331:T:TA	acceptor_gain	0.2800
19:32676078:A:AG	acceptor_gain	0.2600
19:32676079:G:GG	acceptor_gain	0.2600
19:32676079:GA:G	acceptor_gain	0.2600
19:32675978:G:T	donor_gain	0.2500
19:32675995:C:G	donor_gain	0.2500
19:32676062:TGCG:T	acceptor_gain	0.2500
19:32676064:CGCG:C	acceptor_gain	0.2400
19:32676080:A:AT	acceptor_gain	0.2400
19:32676766:TCA:T	donor_gain	0.2400
19:32676075:CGCAG:C	acceptor_gain	0.2300
19:32677280:TGGGG:T	acceptor_gain	0.2300
19:32676007:A:AG	donor_gain	0.2200
19:32676008:G:GG	donor_gain	0.2200
19:32675958:G:T	donor_gain	0.2100
19:32676002:C:G	donor_gain	0.2100
19:32676153:GAGC:G	donor_gain	0.2100
19:32676066:C:CA	acceptor_gain	0.2000
19:32677281:GGGG:G	acceptor_gain	0.2000

AlphaMissense

1474 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:32676780:T:A	W173R	0.995
19:32676780:T:C	W173R	0.995
19:32676782:G:C	W173C	0.994
19:32676782:G:T	W173C	0.994
19:32676570:T:C	F103L	0.985
19:32676572:C:A	F103L	0.985
19:32676572:C:G	F103L	0.985
19:32676382:T:C	L40P	0.984
19:32676498:T:A	W79R	0.981
19:32676498:T:C	W79R	0.981
19:32676346:G:A	G28D	0.980
19:32676394:G:C	R44P	0.980
19:32676538:A:T	D92V	0.980
19:32676402:G:C	A47P	0.979
19:32676357:G:C	D32H	0.975
19:32676358:A:T	D32V	0.975
19:32676781:G:C	W173S	0.972
19:32676781:G:T	W173L	0.972
19:32676345:G:C	G28R	0.970
19:32676321:T:G	Y20D	0.969
19:32676346:G:T	G28V	0.968
19:32676359:C:A	D32E	0.963
19:32676359:C:G	D32E	0.963
19:32676571:T:C	F103S	0.962
19:32676500:G:C	W79C	0.961
19:32676500:G:T	W79C	0.961
19:32676316:C:A	A18E	0.960
19:32676414:G:C	A51P	0.959
19:32676315:G:C	A18P	0.957
19:32676529:T:C	L89P	0.956

dbSNP variants (sampled 300 via entrez): RS1000017029 (19:32676132 G>A,T), RS1000958580 (19:32675929 G>T), RS1001590380 (19:32673877 T>C), RS1001597941 (19:32678244 C>G), RS1002049013 (19:32677963 C>T), RS1002296892 (19:32675154 A>G), RS1002579883 (19:32677702 C>G,T), RS1003020441 (19:32678088 G>A), RS1003395188 (19:32674516 T>C), RS1004635750 (19:32674113 C>T), RS1004981132 (19:32674488 A>C), RS1005016134 (19:32677888 G>C), RS1005361251 (19:32674122 A>C,G), RS1005797116 (19:32676469 C>G), RS1005826880 (19:32676718 G>A,T)

Disease associations

OMIM: gene MIM:607814 | disease phenotypes: MIM:620344, MIM:608415

GenCC curated gene-disease

Disease	Classification	Inheritance
prolonged electroretinal response suppression 2	Definitive	Autosomal recessive
bradyopsia	Strong	Autosomal recessive

Mondo (3): inherited retinal dystrophy (MONDO:0019118), prolonged electroretinal response suppression 2 (MONDO:0958190), bradyopsia (MONDO:0012033)

Orphanet (2): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Bradyopsia (Orphanet:75374)

HPO phenotypes

8 total (9 of 8 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000505	Visual impairment
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0007663	Reduced visual acuity
HP:0011463	Childhood onset
HP:0030511	Bradyopsia
HP:0030512	Difficulty adjusting to changes in luminance
HP:0000556	Retinal dystrophy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001850_7	Major depressive disorder	7.000000e-07

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658
C564243	Prolonged Electroretinal Response Suppression (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
CGP 52608	increases reaction, affects binding	1
licochalcone B	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Valproic Acid	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

39 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)
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