CRB1

Summary

CRB1 (crumbs cell polarity complex component 1, HGNC:2343) is a protein-coding gene on chromosome 1q31.3, encoding Protein crumbs homolog 1 (P82279). Plays a role in photoreceptor morphogenesis in the retina.

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.

Source: NCBI Gene 23418 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited retinal dystrophy (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 24
• Clinical variants (ClinVar): 2,218 total — 265 pathogenic, 224 likely-pathogenic
• Phenotypes (HPO): 69
• MANE Select transcript: NM_201253

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2343
Approved symbol	CRB1
Name	crumbs cell polarity complex component 1
Location	1q31.3
Locus type	gene with protein product
Status	Approved
Aliases	LCA8
Ensembl gene	ENSG00000134376
Ensembl biotype	protein_coding
OMIM	604210
Entrez	23418

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000367397, ENST00000367399, ENST00000367400, ENST00000448952, ENST00000475659, ENST00000476483, ENST00000480086, ENST00000484075, ENST00000535699, ENST00000538660, ENST00000638467, ENST00000681519, ENST00000946298

RefSeq mRNA: 4 — MANE Select: NM_201253 NM_001193640, NM_001257965, NM_001257966, NM_201253

CCDS: CCDS1390, CCDS53454, CCDS58052, CCDS58053

Canonical transcript exons

ENST00000367400 — 12 exons

Exon	Start	End
ENSE00000959562	197356831	197357013
ENSE00000959564	197427454	197428001
ENSE00000959565	197429449	197429614
ENSE00000959566	197434706	197435612
ENSE00002349541	197442166	197442292
ENSE00002725400	197438547	197438675
ENSE00003500204	197421000	197421956
ENSE00003519398	197344281	197344476
ENSE00003540072	197347340	197347479
ENSE00003575422	197328422	197329003
ENSE00003665813	197477664	197478455
ENSE00003844961	197268252	197268482

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 90.26.

FANTOM5 (CAGE): breadth broad, TPM avg 4.0459 / max 209.7555, expressed in 817 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
7517	1.9304	746
7520	1.8891	195
7519	0.1027	47
7518	0.0685	36
7521	0.0237	3
7523	0.0195	4
7522	0.0120	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	90.26	gold quality
ventricular zone	UBERON:0003053	89.30	gold quality
endothelial cell	CL:0000115	87.33	gold quality
cerebellar hemisphere	UBERON:0002245	81.73	gold quality
cerebellar cortex	UBERON:0002129	81.56	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.15	gold quality
amygdala	UBERON:0001876	80.90	gold quality
caudate nucleus	UBERON:0001873	80.75	gold quality
anterior cingulate cortex	UBERON:0009835	80.25	gold quality
cingulate cortex	UBERON:0003027	80.14	gold quality
cerebellum	UBERON:0002037	80.09	gold quality
right frontal lobe	UBERON:0002810	79.18	gold quality
nucleus accumbens	UBERON:0001882	78.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.67	gold quality
Brodmann (1909) area 9	UBERON:0013540	77.65	gold quality
primary visual cortex	UBERON:0002436	76.90	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	76.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	76.39	gold quality
putamen	UBERON:0001874	76.38	gold quality
Ammon’s horn	UBERON:0001954	75.95	gold quality
temporal lobe	UBERON:0001871	75.92	gold quality
telencephalon	UBERON:0001893	75.92	gold quality
corpus callosum	UBERON:0002336	75.90	gold quality
neocortex	UBERON:0001950	75.83	gold quality
prefrontal cortex	UBERON:0000451	75.54	gold quality
cerebral cortex	UBERON:0000956	75.31	gold quality
frontal cortex	UBERON:0001870	74.54	gold quality
cortical plate	UBERON:0005343	74.52	gold quality
embryo	UBERON:0000922	74.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	8.17
E-MTAB-6108	no	144.57
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

58 targeting CRB1, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-7152-5P	99.60	69.33	2094

Literature-anchored findings (GeneRIF, showing 40)

• intracellular domain of CRB1 behaves similarly to its Drosophila counterpart when overexpressed in the fly eye (PMID:11850624)
• Mutation disrupting the cytoplasmic domain of CRB1 is associated with Leber congenital amaurosis in arabs (PMID:12567265)
• REVIEW–overview of the currently known CRB1 sequence variants and prediction of their effects: a genotype-phenotype correlation model for CRB1 mutations (PMID:15459956)
• The PPCRA (Pigmented paravenous chorioretinal atrophy) phenotype is associated with a Val162Met mutation in CRB1 which is likely to affect the structure of the CRB1 protein. (PMID:15623792)
• AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa (PMID:16272259)
• Microarray-based mutation detection allowed the identification of 32% of LCA sequence variants and represents an efficient first-pass screening tool. Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort (PMID:16505055)
• Mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amau (PMID:16543197)
• In human heterozygotes of CRB1 mutations (parents of offspring with Leber congenital amaurosis), distinctive regional retinal dysfunctions were found by multifocal ERG (electroretinography) measurements (PMID:16936081)
• overexpression of human CRB1 and related isoforms, CRB2 and CRB3, had no effect on the levels of presenilin complex components, on NCT maturation or on presenilin endoproteolysis (PMID:17988153)
• Two distinct retinal dystrophies with mutations affecting two different genes ABCA4 and CRB1 genes cosegregated in this family. (PMID:18334942)
• This study presents the case of a compound heterozygous fetus for two mutations in CRB1 (1q3.1-q32.2). (PMID:18682814)
• Although the results cannot exclude other gene mutations, they suggest that LCA patients with a CRB1 mutation may have a particular susceptibility to keratoconus. (PMID:19407021)
• The corneas of human carriers of CRB1 mutations display shape deviations compared with what has been observed in normal individuals (PMID:20805571)
• Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies, including Leber congenital amaurosis, childhood- and juvenile-onset rod-cone and cone-rod dystrophies. (PMID:20956273)
• CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages. (PMID:21757580)
• A review of seven novel mutations and classification of over 150 reported CRB1 sequence variants that were found in more that 240 patients with inherited retinal dystrophies. (PMID:22065545)
• Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly. (PMID:22219627)
• Mutation in CRB1 gene is associated with Stargardt Disease. (PMID:22863181)
• CRB1 (c.2548 G>A) is the likely disease-causing gene in one non-consanguineous Australian pedigree with autosomal recessive retinitis pigmentosa. (PMID:22876132)
• there is no clear genotype-phenotype correlation for CRB1 mutations, which suggests that other components of the CRB complex may influence the severity of retinal disease (PMID:23001562)
• A novel homozygous missense mutation (p.Gly833Asp) in the CRB1 gene is responsible for retinitis pigmentosa, nanophthalmos, and optic disc drusen in a Turkish family. (PMID:23077403)
• We report a novel CRB1 mutation in inherited retinal dystrophy in a Lebanese family. (PMID:23362850)
• study represents the most complete mutational screening of CRB1 in a Spanish LCA and EORP cohort, allowing us to establish gene-specific frequencies and to provide a wide spectrum of CRB1 mutations in the Spanish population (PMID:23379534)
• Four patients with Leber congenital amaurosis were homozygous for a novel mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T>C in the ABCA4 gene and another was carrier of the same mutation. (PMID:23443024)
• we showed that mutations in CRB1 are a common cause of eary onset retinal degeneration among the Jewish and Arab-Muslim populations in Israel and the Palestinian Territories (PMID:23449718)
• R764H is a novel mutation associated with CRB1-related autosomal recessive retinitis pigmentosa. (PMID:23592920)
• The phenotypic spectrum of recessive CRB1 mutation includes childhood cone-rod dystrophy with macular cystic degeneration and the associated ERG can be electronegative. (PMID:23767994)
• We report the case of a 15-year-old girl affected by CRB1 gene-negative retinitis pigmentosa and Coats-like exudative vasculopathy (PMID:23871396)
• Retinal degenerations associated with nanophthalmos and hyperopia, or with keratoconus, can serve as further clinical cues to mutations in CRB1. (PMID:24138049)
• the mammalian apical CRB1 complex might control retinogenesis and prevents onset of Leber congenital amaurosis or retinitis pigmentosa. (PMID:24508727)
• CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients. (PMID:24512366)
• Macular nummular pigmentation is a gene-specific indication for CRB1associated retinal dystrophy. (PMID:24535598)
• Study showed that CRB1 and CRB2 in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 influences the severity of the murine Crb1-linked retinal dystrophies. (PMID:24565864)
• Mutations in CRB1 and ABCA4 were found in a Swedish family with Leber congenital amaurosis and Stargardt disease. (PMID:24664696)
• The results from this study show that patients with Leber congenital amaurosis carry CRB1 null mutations more frequently than patients with retinitis pigmentosa. (PMID:24715753)
• This report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations affecting 2 siblings exhibiting a relatively well-developed retinal structure and preservation of generalized retinal function. (PMID:24811962)
• The phenotypes of these novel mutations for early-onset retinal dystrophy (EORD) are typical of CRB1-associated EORD (PMID:25323024)
• Removal of this side chain enhances the binding affinity by more than fivefold, suggesting that access of Crb to Pals1 may be regulated by intradomain contacts or by protein-protein interaction. (PMID:25760605)
• Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene. (PMID:26165328)
• Comprehensive retinal dystrophy panel revealed a homozygous mutation in CRB1 (p.Pro836Thr:c.2506C>A) in both twins. (PMID:26312378)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	crb1	ENSDARG00000100506
mus_musculus	Crb1	ENSMUSG00000063681
rattus_norvegicus	Crb1	ENSRNOG00000010903
drosophila_melanogaster	uif	FBGN0031879
caenorhabditis_elegans		WBGENE00000792
caenorhabditis_elegans		WBGENE00008194
caenorhabditis_elegans		WBGENE00012134
caenorhabditis_elegans		WBGENE00013118
caenorhabditis_elegans		WBGENE00018547
caenorhabditis_elegans		WBGENE00018607

Protein

Protein identifiers

Protein crumbs homolog 1 — P82279 (reviewed: P82279)

All UniProt accessions (6): A0A075B6G4, A0A0C4DG35, A0A7D6VLH9, A0A7D6VM04, F5H0L2, P82279

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion.

Subunit / interactions. Component of a complex composed of PALS1, CRB1 and EPB41L5. Within the complex, interacts (via intracellular domain) with PALS1 and EPB41L5 (via FERM domain). Forms a complex with MPP4 and PALS1. Interacts with MPDZ/MUPP1 and MPP4.

Subcellular location. Apical cell membrane. Secreted. Cell projection. Cilium. Photoreceptor outer segment. Photoreceptor inner segment Secreted.

Tissue specificity. Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye. Expressed at the outer limiting membrane and apical to adherens junctions in the retina.

Post-translational modifications. Extensively glycosylated.

Disease relevance. CRB1 mutations have been found in various retinal dystrophies, chronic and disabling disorders of visual function. They predominantly involve the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. Onset of inherited retinal dystrophies is painless, bilateral and typically progressive. Most people experience gradual peripheral vision loss or tunnel vision, and difficulties with poor illumination and night vision. Central vision is usually unaffected, so the person may still be able to read. However, it can also deteriorate to cause total blindness. Examples of retinal dystrophies are retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy among others. Retinitis pigmentosa 12 (RP12) [MIM:600105] 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. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. The disease is caused by variants affecting the gene represented in this entry. Leber congenital amaurosis 8 (LCA8) [MIM:613835] A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry. Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870] Unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the Crumbs protein family.

Isoforms (5)

UniProt ID	Names	Canonical?
P82279-1	1	yes
P82279-2	2
P82279-3	3
P82279-4	4
P82279-5	5

RefSeq proteins (4): NP_001180569, NP_001244894, NP_001244895, NP_957705* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001791	Laminin_G	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR013032	EGF-like_CS	Conserved_site
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site

Pfam: PF00008, PF02210, PF12661

UniProt features (220 total): sequence variant 99, disulfide bond 59, glycosylation site 23, domain 22, splice variant 7, topological domain 2, mutagenesis site 2, signal peptide 1, chain 1, turn 1, strand 1, region of interest 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4UU5	X-RAY DIFFRACTION	1.23

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P82279-F1	75.19	0.14

Functional residue map

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

Disulfide bonds (59): 1202–1211, 1218–1229, 1223–1238, 1240–1249, 1259–1274, 1268–1283, 1285–1294, 1301–1312, 1306–1321, 1323–1332, 34–45, 39–54, 56–67, 74–85, 79–96, 98–107, 114–125, 119–134, 136–145, 152–163 …

Glycosylation sites (23): 30, 41, 42, 215, 287, 313, 322, 418, 427, 453, 550, 561, 657, 757, 871, 880, 968, 975, 1000, 1190 …

Mutagenesis-validated functional residues (2):

Position	Phenotype
1377–1379	abolishes interaction with epb41l5. no effection on interaction wtih pals1.
1403–1406	abolishes interaction with pals1. not required for interaction with epb41l5.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 258 (showing top): MODULE_92, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GCANCTGNY_MYOD_Q6, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_NEUROGENESIS, FOXO4_01, GOBP_NEURAL_RETINA_DEVELOPMENT, FOXO1_01, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, GOBP_ESTABLISHMENT_OF_CELL_POLARITY

GO Biological Process (26): blood vessel remodeling (GO:0001974), plasma membrane organization (GO:0007009), heterophilic cell-cell adhesion (GO:0007157), establishment or maintenance of cell polarity (GO:0007163), cell-cell signaling (GO:0007267), intracellular protein localization (GO:0008104), glial cell differentiation (GO:0010001), gene expression (GO:0010467), retina layer formation (GO:0010842), photoreceptor cell outer segment organization (GO:0035845), establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197), photoreceptor cell maintenance (GO:0045494), detection of light stimulus involved in visual perception (GO:0050908), post-embryonic retina morphogenesis in camera-type eye (GO:0060060), establishment of bipolar cell polarity involved in cell morphogenesis (GO:0061159), camera-type eye photoreceptor cell development (GO:0062139), cellular response to light stimulus (GO:0071482), retina homeostasis (GO:0001895), cell communication (GO:0007154), visual perception (GO:0007601), signaling (GO:0023052), photoreceptor cell development (GO:0042461), eye photoreceptor cell development (GO:0042462), retina development in camera-type eye (GO:0060041), retina morphogenesis in camera-type eye (GO:0060042), membrane organization (GO:0061024)

GO Molecular Function (2): calcium ion binding (GO:0005509), protein binding (GO:0005515)

GO Cellular Component (15): photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), extracellular region (GO:0005576), plasma membrane (GO:0005886), microvillus (GO:0005902), adherens junction (GO:0005912), apical plasma membrane (GO:0016324), protein-containing complex (GO:0032991), subapical complex (GO:0035003), apical junction complex (GO:0043296), glial cell projection (GO:0097386), cell-cell junction (GO:0005911), membrane (GO:0016020), cell projection (GO:0042995), apical part of cell (GO:0045177)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cellular process	2
retina morphogenesis in camera-type eye	2
cell-cell junction	2
tissue remodeling	1
endomembrane system organization	1
membrane organization	1
cell-cell adhesion	1
cell communication	1
signaling	1
macromolecule localization	1
cell differentiation	1
gliogenesis	1
macromolecule biosynthetic process	1
neural retina development	1
anatomical structure formation involved in morphogenesis	1
cellular component organization	1
photoreceptor cell development	1
establishment or maintenance of apical/basal cell polarity	1
retina homeostasis	1
multicellular organismal process	1
visual perception	1
detection of light stimulus involved in sensory perception	1
post-embryonic animal morphogenesis	1
cell morphogenesis	1
establishment of bipolar cell polarity	1
eye photoreceptor cell development	1
camera-type eye development	1
response to light stimulus	1
cellular response to radiation	1
tissue homeostasis	1
sensory perception of light stimulus	1
metal ion binding	1
binding	1
photoreceptor cell cilium	1
membrane	1
cell periphery	1
actin filament bundle	1
actin-based cell projection	1
apical part of cell	1

Protein interactions and networks

STRING

1029 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CRB1	PALS1	Q8N3R9	997
CRB1	PATJ	Q8NI35	993
CRB1	EPB41	P11171	656
CRB1	CRB3	Q9BUF7	634
CRB1	PARD3	Q8TEW0	584
CRB1	MSN	P26038	552
CRB1	FRMD6	Q96NE9	540
CRB1	SCRIB	Q14160	499
CRB1	LLGL2	Q6P1M3	447
CRB1	KIF3A	Q9Y496	441
CRB1	KCNT2	Q6UVM3	420
CRB1	ASPM	Q8IZT6	368
CRB1	A0A096LNW4	A0A096LNW4	354
CRB1	B3GALT2	O43825	348
CRB1	RAB14	P35287	348

IntAct

32 interactions, top by confidence:

A	B	Type	Score
CRB1	PALS1	psi-mi:“MI:0915”(physical association)	0.780
PALS1	CRB1	psi-mi:“MI:0407”(direct interaction)	0.780
CRB1	PALS1	psi-mi:“MI:0403”(colocalization)	0.780
CRB1	PALS1	psi-mi:“MI:0914”(association)	0.780
CRB1	PALS1	psi-mi:“MI:0914”(association)	0.630
CRB1	PALS1	psi-mi:“MI:0915”(physical association)	0.630
C1QBP	DDX6	psi-mi:“MI:0915”(physical association)	0.620
CRB1	EPB41L5	psi-mi:“MI:0915”(physical association)	0.570
MPP4	CRB1	psi-mi:“MI:0915”(physical association)	0.520
CRB1	EPB41L5	psi-mi:“MI:0915”(physical association)	0.500
PATJ	CRB1	psi-mi:“MI:0915”(physical association)	0.500
YWHAE	HNRNPA1	psi-mi:“MI:0915”(physical association)	0.400
C1QBP	RPS3	psi-mi:“MI:0915”(physical association)	0.400
EIF4ENIF1	RPLP0	psi-mi:“MI:0915”(physical association)	0.400
EIF4ENIF1	PABPC1	psi-mi:“MI:0915”(physical association)	0.400
CRB1	EPB41L4B	psi-mi:“MI:0915”(physical association)	0.370
CRB1	MSN	psi-mi:“MI:0915”(physical association)	0.370
ALB	F2	psi-mi:“MI:0914”(association)	0.350
TSC22D1	CRB1	psi-mi:“MI:0915”(physical association)	0.000
PSMD13	CRB1	psi-mi:“MI:0915”(physical association)	0.000
PRKAR1A	CRB1	psi-mi:“MI:0915”(physical association)	0.000
CD2BP2	CRB1	psi-mi:“MI:0915”(physical association)	0.000
CRB1	DDX56	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): CRB1 (Affinity Capture-MS), CRB1 (Affinity Capture-MS), MIB1 (Affinity Capture-Western), EPB41L5 (Affinity Capture-Western), CRB1 (Co-localization), CRB1 (Affinity Capture-MS), CRB1 (Affinity Capture-RNA), CRB1 (Proximity Label-MS), CRB1 (Affinity Capture-RNA), CRB1 (Affinity Capture-MS), CRB1 (Affinity Capture-RNA), HSP90AA1 (Cross-Linking-MS (XL-MS)), CRB1 (Co-fractionation), CRB1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2K5V015, A1YIY0, A8MUZ8, A8MWA4, B8JI71, O08569, P01133, P0DJ43, P14370, P14585, P17630, P19070, P48357, P82279, P97435, Q07444, Q0D2K5, Q28066, Q28660, Q29RU2, Q4KUS1, Q5G872, Q5R6R1, Q5RCW9, Q5T1H1, Q5UKY4, Q5Z5Q3, Q60736, Q63515, Q63722, Q6DFV8, Q6GMZ9, Q6V0K7, Q6ZN79, Q7TSY4, Q811Q4, Q8N2E2, Q8VHS2, Q90Y54, Q95MI4

Diamond homologs: A1A5Y0, A2VCU8, A4IGL7, A5A8Y8, A6QR11, B5DFC9, O75095, O88322, P07996, P10493, P14585, P35441, P35448, P82279, P98118, Q14112, Q20911, Q24025, Q28178, Q2PC93, Q2VWQ2, Q3MHH9, Q5FW85, Q5R3Z7, Q61220, Q62918, Q62919, Q6AZ60, Q6GUQ1, Q6MG84, Q75N90, Q7T3Q2, Q7ZXL5, Q80T14, Q8AVH7, Q8AWW5, Q8VHS2, Q90827, Q90ZD5, Q91X17

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2218 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	265
Likely pathogenic	224
Uncertain significance	706
Likely benign	729
Benign	30

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1039551	NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg)	Pathogenic
1068576	NM_201253.3(CRB1):c.2942_2943del (p.Arg981fs)	Pathogenic
1069427	NM_201253.3(CRB1):c.1974_1990del (p.Ser659fs)	Pathogenic
1069458	NM_201253.3(CRB1):c.1078_1081del (p.Glu360fs)	Pathogenic
1070332	NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter)	Pathogenic
1070751	NM_201253.3(CRB1):c.3134del (p.Leu1045fs)	Pathogenic
1071809	NM_201253.3(CRB1):c.3860del (p.Pro1287fs)	Pathogenic
1072460	NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter)	Pathogenic
1073128	NM_201253.3(CRB1):c.3887del (p.Lys1296fs)	Pathogenic
1073987	NM_201253.3(CRB1):c.718C>T (p.Gln240Ter)	Pathogenic
1074341	NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter)	Pathogenic
1074495	NM_201253.3(CRB1):c.4005+1G>C	Pathogenic
1074853	NM_201253.3(CRB1):c.962_966del (p.Asp321fs)	Pathogenic
1075122	NM_201253.3(CRB1):c.3325dup (p.Tyr1109fs)	Pathogenic
1075887	NM_201253.3(CRB1):c.770dup (p.Asp257fs)	Pathogenic
1076361	NC_000001.10:g.(?197407677)(197411422_?)del	Pathogenic
1076362	NC_000001.10:g.(?197297542)(197326153_?)del	Pathogenic
1076902	NM_201253.3(CRB1):c.4006-1G>T	Pathogenic
1172709	NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs)	Pathogenic
1190977	NM_201253.3(CRB1):c.3144del (p.Ser1049fs)	Pathogenic
1213984	NM_201253.3(CRB1):c.750T>A (p.Cys250Ter)	Pathogenic
1275767	NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)	Pathogenic
1283919	NM_201253.3(CRB1):c.20_23del (p.Asn7fs)	Pathogenic
1298444	NM_201253.3(CRB1):c.2118del (p.Cys707fs)	Pathogenic
1349280	NC_000001.10:g.(?197407491)(197411316_?)del	Pathogenic
1358615	NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter)	Pathogenic
1364895	NM_201253.3(CRB1):c.4142_4147del (p.Pro1381_Ser1382del)	Pathogenic
1364997	NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter)	Pathogenic
1369922	NC_000001.10:g.(?197237324)(197326153_?)del	Pathogenic
1373006	NM_201253.3(CRB1):c.848+1G>A	Pathogenic

SpliceAI

3243 predictions. Top by Δscore:

Variant	Effect	Δscore
1:197328968:G:GT	donor_gain	1.0000
1:197344266:T:A	acceptor_gain	1.0000
1:197344279:A:AT	acceptor_loss	1.0000
1:197344280:G:GA	acceptor_loss	1.0000
1:197427439:A:AG	acceptor_gain	1.0000
1:197427439:ATTTT:A	acceptor_gain	1.0000
1:197427443:T:TA	acceptor_gain	1.0000
1:197442293:G:GG	donor_gain	1.0000
1:197268416:GCACT:G	donor_gain	0.9900
1:197268483:G:GG	donor_gain	0.9900
1:197328800:A:G	donor_gain	0.9900
1:197329000:TCTGG:T	donor_loss	0.9900
1:197329001:CTGG:C	donor_loss	0.9900
1:197329002:TGG:T	donor_loss	0.9900
1:197329005:T:TC	donor_loss	0.9900
1:197344261:T:A	acceptor_gain	0.9900
1:197344263:T:TA	acceptor_gain	0.9900
1:197344276:A:AG	acceptor_gain	0.9900
1:197344276:AAAAG:A	acceptor_gain	0.9900
1:197344277:A:G	acceptor_gain	0.9900
1:197344279:A:G	acceptor_gain	0.9900
1:197344280:GGT:G	acceptor_gain	0.9900
1:197344280:GGTGT:G	acceptor_gain	0.9900
1:197344472:AACAG:A	donor_loss	0.9900
1:197344473:ACAGG:A	donor_loss	0.9900
1:197344474:CAG:C	donor_loss	0.9900
1:197344475:AG:A	donor_loss	0.9900
1:197344476:GG:G	donor_loss	0.9900
1:197344477:GT:G	donor_loss	0.9900
1:197344478:T:G	donor_loss	0.9900

AlphaMissense

9362 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:197328919:T:A	C190S	0.989
1:197328920:G:C	C190S	0.989
1:197421887:T:A	C687S	0.989
1:197421888:G:C	C687S	0.989
1:197328898:T:A	C183S	0.988
1:197328899:G:C	C183S	0.988
1:197328899:G:A	C183Y	0.984
1:197421266:T:A	C480S	0.984
1:197421267:G:C	C480S	0.984
1:197435014:T:A	W1051R	0.984
1:197435014:T:C	W1051R	0.984
1:197328934:T:A	C195S	0.983
1:197328935:G:C	C195S	0.983
1:197328899:G:T	C183F	0.980
1:197328838:T:A	C163S	0.978
1:197328839:G:C	C163S	0.978
1:197328900:C:G	C183W	0.977
1:197328952:T:A	C201S	0.977
1:197328953:G:C	C201S	0.977
1:197328872:G:A	C174Y	0.976
1:197421887:T:C	C687R	0.976
1:197421889:C:G	C687W	0.976
1:197328871:T:A	C174S	0.975
1:197328872:G:C	C174S	0.975
1:197435016:G:C	W1051C	0.975
1:197435016:G:T	W1051C	0.975
1:197435237:T:C	F1125S	0.973
1:197328919:T:C	C190R	0.972
1:197435237:T:G	F1125C	0.972
1:197421267:G:A	C480Y	0.971

dbSNP variants (sampled 300 via entrez): RS1000011937 (1:197352560 C>G), RS1000022838 (1:197358791 C>G,T), RS1000035475 (1:197400658 C>G), RS1000036652 (1:197305687 G>A), RS1000057028 (1:197361277 T>G), RS1000064756 (1:197220600 C>G), RS1000070569 (1:197311697 TAGTG>T), RS1000072595 (1:197439751 C>T), RS1000076909 (1:197478695 C>T), RS1000089368 (1:197346426 T>A), RS1000106626 (1:197270216 T>C), RS1000112575 (1:197373239 C>T), RS1000115225 (1:197353923 A>G), RS1000128293 (1:197220042 AT>A,ATT), RS1000134263 (1:197472149 G>A,T)

Disease associations

OMIM: gene MIM:604210 | disease phenotypes: MIM:172870, MIM:600105, MIM:613835, MIM:204000, MIM:268000, MIM:120970, MIM:181500, MIM:248200, MIM:500004, MIM:611809, MIM:600059

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 12	Definitive	Autosomal recessive
Leber congenital amaurosis 8	Definitive	Autosomal recessive
hereditary macular dystrophy	Definitive	Autosomal recessive
pigmented paravenous retinochoroidal atrophy	Supportive	Autosomal dominant
nanophthalmia	Supportive	Autosomal dominant
Leber congenital amaurosis	Supportive	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
inherited retinal dystrophy	Definitive	AR

Mondo (20): pigmented paravenous retinochoroidal atrophy (MONDO:0008246), retinitis pigmentosa 12 (MONDO:0010818), Leber congenital amaurosis 8 (MONDO:0013453), Leber congenital amaurosis (MONDO:0018998), retinitis pigmentosa (MONDO:0019200), inherited retinal dystrophy (MONDO:0019118), cone-rod dystrophy (MONDO:0015993), schizophrenia (MONDO:0005090), severe early-childhood-onset retinal dystrophy (MONDO:0009549), hereditary macular dystrophy (MONDO:0020242), optic atrophy (MONDO:0003608), Leber congenital amaurosis 1 (MONDO:0008764), cone dystrophy (MONDO:0000455), intellectual disability (MONDO:0001071), Stargardt disease (MONDO:0019353)

Orphanet (12): Pigmented paravenous retinochoroidal atrophy (Orphanet:251295), Leber congenital amaurosis (Orphanet:65), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Cone rod dystrophy (Orphanet:1872), Severe early-childhood-onset retinal dystrophy (Orphanet:364055), Stargardt disease (Orphanet:827), Progressive cone dystrophy (Orphanet:1871), Autosomal recessive bestrophinopathy (Orphanet:139455), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140), OBSOLETE: Genetic macular dystrophy (Orphanet:98664), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

69 total (30 of 69 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000533	Chorioretinal atrophy
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000550	Undetectable electroretinogram
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000565	Esotropia
HP:0000568	Microphthalmia
HP:0000577	Exotropia
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000610	Abnormal choroid morphology
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST000548_1	Asthma	2.000000e-13
GCST000548_2	Asthma	9.000000e-11
GCST002479_5	Lupus nephritis in systemic lupus erythematosus	5.000000e-06
GCST003097_4	Pediatric autoimmune diseases	2.000000e-07
GCST003989_6	Chin dimples	1.000000e-38
GCST004131_92	Inflammatory bowel disease	4.000000e-11
GCST004132_61	Crohn’s disease	5.000000e-11
GCST004904_250	Body mass index	8.000000e-09
GCST006624_13	Systolic blood pressure	6.000000e-11
GCST006940_42	Neurociticism	2.000000e-09
GCST006950_46	Feeling worry	8.000000e-13
GCST006951_33	Feeling hurt	1.000000e-10
GCST006979_964	Heel bone mineral density	3.000000e-17
GCST008163_20	Height	4.000000e-06
GCST010697_27	Cortical surface area (min-P)	2.000000e-08
GCST010698_5	Subcortical volume (min-P)	5.000000e-08
GCST010699_10	Brain morphology (min-P)	2.000000e-10
GCST010700_57	Cortical thickness (MOSTest)	7.000000e-10
GCST010701_135	Cortical surface area (MOSTest)	5.000000e-10
GCST010702_59	Subcortical volume (MOSTest)	5.000000e-12
GCST010703_246	Brain morphology (MOSTest)	1.000000e-11
GCST012696_4	Anorexia nervosa	3.000000e-06
GCST90013466_62	Height	2.000000e-06
GCST90013468_30	Height	5.000000e-10

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006335	systolic blood pressure
EFO:0007660	neuroticism measurement
EFO:0009589	worry measurement
EFO:0009599	feeling emotionally hurt measurement
EFO:0009270	heel bone mineral density
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (13)

Descriptor	Name	Tree numbers
D000077765	Cone Dystrophy	C11.270.151; C11.768.216
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
D000080362	Stargardt Disease	C11.270.872; C11.768.585.439.339; C16.320.290.724
C567518	Bestrophinopathy (supp.)
C566801	Pigmented Paravenous Chorioretinal Atrophy (supp.)
C563999	Retinitis Pigmentosa 12 (supp.)
C564008	Retinitis Pigmentosa 13 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Benzo(a)pyrene	affects methylation, decreases expression	3
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
ethyl-p-hydroxybenzoate	decreases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
belinostat	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
MRK 003	increases expression	1
Lycopene	decreases expression	1
Vorinostat	increases expression	1
Lipopolysaccharides	decreases expression, decreases reaction	1
Methapyrilene	affects methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	affects methylation	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

16 cell lines: 15 induced pluripotent stem cell, 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A1ZA	ESi082-A	Induced pluripotent stem cell	Male
CVCL_A4DV	WAe009-A-38	Embryonic stem cell	Female
CVCL_A8MG	LEIi016-A	Induced pluripotent stem cell	Male
CVCL_A8MH	LEIi016-B	Induced pluripotent stem cell	Male
CVCL_F1JI	LUMCi054-A	Induced pluripotent stem cell	Male
CVCL_F1JJ	LUMCi054-A-1	Induced pluripotent stem cell	Male
CVCL_F1JK	LUMCi054-A-2	Induced pluripotent stem cell	Male
CVCL_F1JL	LUMCi055-A	Induced pluripotent stem cell	Male
CVCL_F1JM	LUMCi056-A	Induced pluripotent stem cell	Male
CVCL_F1W9	LUMCi054-A-3	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00999609	PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT06891443	PHASE3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT00516477	PHASE1	COMPLETED	Safety Study in Subjects With Leber Congenital Amaurosis