Retinal detachment

Summary

Retinal detachment (MONDO:0008375) is a disease with 37 cohort genes (42 GWAS associations across 28 studies) and 119 clinical trials. The dominant Reactome pathway is Collagen biosynthesis and modifying enzymes (4 cohort genes). Top therapeutic interventions include dexmedetomidine, betamethasone, and bupivacaine.

At a glance

• Cohort genes: 37
• GWAS associations: 42
• ClinVar variants: 6
• Clinical trials: 119

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinal detachment
Mondo ID	MONDO:0008375
EFO	EFO:0005773
MeSH	D012163
OMIM	180050, 312530
DOID	DOID:5327
NCIT	C26874
SNOMED CT	42059000
UMLS	C0035305
MedGen	19759
Is cancer (heuristic)	no

Also known as: detached retina · retina, detached · retinal detachment

Data availability: 6 ClinVar variants · 42 GWAS associations (28 studies).

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal detachment

Related subtypes (31): retinal ischemia, rubeosis iridis, retinal vascular disorder, retinitis, retinal nerve fiber layer disorder, retinal edema, retinal degeneration, night blindness, hypertensive retinopathy, macular holes, iris hypoplasia with glaucoma, angioid streaks, bradyopsia, myopic macular degeneration, osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome, congenital retinal arteriovenous communication, Eales disease, central serous chorioretinopathy, achromatopsia, cancer-associated retinopathy, persistent placoid maculopathy, inherited vitreoretinopathy, retina neoplasm, retinal ciliopathy, melanoma associated retinopathy, isolated foveal hypoplasia, acute macular neuroretinopathy, autoimmune retinopathy, proliferative vitreoretinopathy, isolated chorioretinal dystrophy, torpedo maculopathy

Subtypes (2): retinal perforation, rhegmatogenous retinal detachment

Genetics & variants

GWAS landscape

42 GWAS associations across 28 studies. Top hits map to 24 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7118363	7e-23	FAT3	G	0.17
rs10765567	2e-17	FAT3	A	1.14
rs10765568	1e-15	FAT3	T	0.2
chr14:74259676	1e-11		?	6.2
rs11992725	2e-11	COL22A1	G	0.17
rs7118248	4e-11	FAT3	T	0.17
rs10094560	4e-09	COL22A1	T	0.14
rs577810891	7e-09	WWOX	?
rs633918	2e-08	GRM5	A	1.14
rs186668408	4e-08	LINC01916 - CDH7	A	1.13
rs3138142	5e-08	RDH5	T	0.12
rs11942256	2e-07	BMP3	?	1.31
rs2579136	2e-07	DLG5	?	1.13
rs12193446	8e-07	LAMA2	G	1.23
rs11128322	9e-07	RPL21P41 - KBTBD8	?	1.14
rs1635554	1e-06	COL2A1	?	1.24
rs12792820	1e-06	TRIM29	?	1.12
rs2303385	1e-06	EFEMP2	?	1.12
rs140229059	1e-06	FSTL5	?	1.57
rs73016337	1e-06	CPAMD8	?	1.51
rs80277094	2e-06	TMEM30CP	?	1.14
rs114176452	2e-06	RGL1	?	1.55
rs6085655	2e-06	CASC20 - LINC01713	?	1.47
rs1441642	3e-06	SMYD1 - FABP1	G	1.12
rs9913462	3e-06	MAPT	C	1.2
rs12669108	3e-06	DNAJB6 - PTPRN2	C	1.31
rs113721561	3e-06	SFSWAP	?	1.42
rs12939240	4e-06	NOG - C17orf67	T	1.12
rs7076757	4e-06	PLXDC2	G	1.14
rs72657077	4e-06	FRAS1, MICOS10P4	?	1.38

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473424	UK Biobank Whole-Genome Sequencing Consortium	2025	7,323	451,117	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90838712	Brock DC	2026	7,276	236,741	Rare heterozygous missense variants in VSX2 are associated with retinal detachment.
GCST90018911	Sakaue S	2021	6,591	470,440	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST009960	Boutin TS	2019	6,141	59,475	Insights into the genetic basis of retinal detachment.
GCST010377	Han X	2020	4,257	39,181	Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.
GCST90079897	Backman JD	2021	4,015	382,918	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083883	Backman JD	2021	4,015	382,918	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST009959	Boutin TS	2019	3,977	360,233	Insights into the genetic basis of retinal detachment.
GCST90134548	Xue Z	2022	3,449	60,562	Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.
GCST009958	Boutin TS	2019	2,893	360,233	Insights into the genetic basis of retinal detachment.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	3
Tier 4: intronic/intergenic	32

MAF distribution

Bucket	Variants
common (>=0.05)	22
low_freq (0.01-0.05)	10
rare (<0.01)	0
unknown	3

Functional consequences

Consequence	Count
intron_variant	25
intergenic_variant	3
regulatory_region_variant	3
synonymous_variant	2
unknown	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7118363	11	92890442	A>C,G,T	0.05	intron_variant	FAT3	7e-23	Tier 4: intronic/intergenic
rs10765567	11	92868743	A>T	0.37	intron_variant	FAT3	2e-17	Tier 4: intronic/intergenic
rs10765568	11	92874700	C>T	0.37	intron_variant	FAT3	1e-15	Tier 4: intronic/intergenic
chr14:74259676							1e-11	Tier 4: intronic/intergenic
rs11992725	8	138897410	G>A	0.05	intron_variant	COL22A1	2e-11	Tier 4: intronic/intergenic
rs7118248	11	92890183	T>G	0.05	intron_variant	FAT3	4e-11	Tier 4: intronic/intergenic
rs10094560	8	138897795	C>A,T	0.05	intron_variant	COL22A1	4e-09	Tier 4: intronic/intergenic
rs577810891	16	79005911	C>T		intron_variant	WWOX	7e-09	Tier 4: intronic/intergenic
rs633918	11	88881688	T>C	0.381	intron_variant	GRM5	2e-08	Tier 4: intronic/intergenic
rs186668408	18	65667840	G>A		intergenic_variant	LINC01916 - CDH7	4e-08	Tier 4: intronic/intergenic
rs3138142	12	55721801	C>A,T	0.05	synonymous_variant	RDH5	5e-08	Tier 4: intronic/intergenic
rs11942256	4	81049102	G>A,T	0.038	intron_variant	BMP3	2e-07	Tier 4: intronic/intergenic
rs2579136	10	77859703	G>A	0.293	intron_variant	DLG5	2e-07	Tier 4: intronic/intergenic
rs12193446	6	129498893	A>G	0.096	intron_variant	LAMA2	8e-07	Tier 4: intronic/intergenic
rs11128322	3	66944278	G>A,T	0.229	intron_variant	RPL21P41 - KBTBD8	9e-07	Tier 4: intronic/intergenic
rs1635554	12	47980730	A>G,T	0.089	intron_variant	COL2A1	1e-06	Tier 4: intronic/intergenic
rs12792820	11	120184695	T>A	0.306	regulatory_region_variant	TRIM29	1e-06	Tier 3: regulatory
rs2303385	11	65873091	G>A	0.361	regulatory_region_variant	EFEMP2	1e-06	Tier 3: regulatory
rs140229059	4	162074957	G>A	0.011	intron_variant	FSTL5	1e-06	Tier 4: intronic/intergenic
rs73016337	19	16978221	A>G	0.017	intron_variant	CPAMD8	1e-06	Tier 4: intronic/intergenic
rs80277094	3	100195985	G>A,C	0.187	intron_variant	TMEM30CP	2e-06	Tier 4: intronic/intergenic
rs114176452	1	183817643	T>A	0.011	intron_variant	RGL1	2e-06	Tier 4: intronic/intergenic
rs6085655	20	6698236	G>A	0.015	regulatory_region_variant	CASC20 - LINC01713	2e-06	Tier 3: regulatory
rs1441642	2	88115568	A>G,T	0.394	intergenic_variant	SMYD1 - FABP1	3e-06	Tier 4: intronic/intergenic
rs9913462	17	45914277	G>C	0.107	intron_variant	MAPT	3e-06	Tier 4: intronic/intergenic
rs12669108	7	157477436	A>C,T	0.077	intron_variant	DNAJB6 - PTPRN2	3e-06	Tier 4: intronic/intergenic
rs113721561	12	131781904	C>T	0.017	intron_variant	SFSWAP	3e-06	Tier 4: intronic/intergenic
rs12939240	17	56630556	G>A	0.308	intron_variant	NOG - C17orf67	4e-06	Tier 4: intronic/intergenic
rs7076757	10	20020556	G>A,T	0.213	intron_variant	PLXDC2	4e-06	Tier 4: intronic/intergenic
rs72657077	4	78379252	C>T	0.02	non_coding_transcript_exon_variant	FRAS1, MICOS10P4	4e-06	Tier 4: intronic/intergenic

ClinVar germline variants

6 retrieved; paginated sample, class counts are floors:

2 uncertain significance, 2 likely pathogenic, 2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
812293	NM_001844.5(COL2A1):c.842_843insT (p.Gly282fs)	COL2A1	Pathogenic	no assertion criteria provided
523376	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	RHO	Pathogenic	criteria provided, multiple submitters, no conflicts
973782	NM_001853.4(COL9A3):c.1107+1G>C	COL9A3	Likely pathogenic	no assertion criteria provided
523342	NM_000266.4(NDP):c.308_311dup (p.Lys104fs)	NDP	Likely pathogenic	criteria provided, single submitter
392918	NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)	COL9A3	Uncertain significance	criteria provided, multiple submitters, no conflicts
523414	NM_001142800.2(EYS):c.4152del (p.Pro1385fs)	EYS	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 60 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 1

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
COL2A1	COL2A1	GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
COL2A1	Orphanet:137678	Spondyloepiphyseal dysplasia with metatarsal shortening
COL2A1	Orphanet:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia
COL2A1	Orphanet:1856	Spondyloperipheral dysplasia-short ulna syndrome
COL2A1	Orphanet:209867	Autosomal dominant rhegmatogenous retinal detachment
COL2A1	Orphanet:2380	Legg-Calvé-Perthes disease
COL2A1	Orphanet:459051	Spondyloepiphyseal dysplasia, Stanescu type
COL2A1	Orphanet:485	Kniest dysplasia
COL2A1	Orphanet:85166	Platyspondylic dysplasia, Torrance type
COL2A1	Orphanet:85198	Dysspondyloenchondromatosis
COL2A1	Orphanet:86820	Familial avascular necrosis of femoral head
COL2A1	Orphanet:90653	Stickler syndrome type 1
COL2A1	Orphanet:93279	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
COL2A1	Orphanet:93296	Achondrogenesis type 2
COL2A1	Orphanet:93297	Hypochondrogenesis
COL2A1	Orphanet:93315	Spondylometaphyseal dysplasia, ‘corner fracture’ type
COL2A1	Orphanet:93316	Spondylometaphyseal dysplasia, Schmidt type
COL2A1	Orphanet:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
COL2A1	Orphanet:94068	Spondyloepiphyseal dysplasia congenita
RHO	Orphanet:215	Congenital stationary night blindness
RHO	Orphanet:52427	Retinitis punctata albescens
RHO	Orphanet:791	Retinitis pigmentosa
BMP2	Orphanet:261295	20p12.3 microdeletion syndrome
BMP2	Orphanet:93396	Brachydactyly type A2
ZEB2	Orphanet:261537	Mowat-Wilson syndrome due to monosomy 2q22
ZEB2	Orphanet:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation
ZEB2	Orphanet:626	Large/giant congenital melanocytic nevus
DNAJB6	Orphanet:34516	DNAJB6-related limb-girdle muscular dystrophy D1
DNAJB6	Orphanet:708126	DNAJB6-related distal myopathy
FERMT1	Orphanet:2908	Kindler epidermolysis bullosa
FRAS1	Orphanet:2052	Fraser syndrome
FRAS1	Orphanet:93100	Renal agenesis, unilateral
EYS	Orphanet:791	Retinitis pigmentosa
COL9A3	Orphanet:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly
COL9A3	Orphanet:250984	Autosomal recessive Stickler syndrome
CPAMD8	Orphanet:519388	Autosomal recessive anterior segment dysgenesis
CRTAP	Orphanet:2050	Cole-Carpenter syndrome
CRTAP	Orphanet:216804	Osteogenesis imperfecta type 2
CRTAP	Orphanet:216812	Osteogenesis imperfecta type 3
CRTAP	Orphanet:216820	Osteogenesis imperfecta type 4
ODAD2	Orphanet:244	Primary ciliary dyskinesia
DGKE	Orphanet:329903	Immunoglobulin-mediated membranoproliferative glomerulonephritis
DGKE	Orphanet:357008	Hemolytic uremic syndrome with DGKE deficiency
EFEMP2	Orphanet:314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFEMP2	Orphanet:90349	Autosomal recessive cutis laxa type 1
EFEMP2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
LAMA2	Orphanet:258	Laminin subunit alpha 2-related congenital muscular dystrophy
LAMA2	Orphanet:565837	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
MAPT	Orphanet:100069	Semantic dementia
MAPT	Orphanet:100070	Progressive non-fluent aphasia
MAPT	Orphanet:240071	Classic progressive supranuclear palsy syndrome

Cohort genes → proteins

37 cohort genes, 37 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	32
gwas_and_clinvar	1
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
COL2A1	HGNC:2200	ENSG00000139219	P02458	Collagen alpha-1(II) chain	gwas,clinvar
RHO	HGNC:10012	ENSG00000163914	P08100	Rhodopsin	clinvar
BMP2	HGNC:1069	ENSG00000125845	P12643	Bone morphogenetic protein 2	gwas
BMP3	HGNC:1070	ENSG00000152785	P12645	Bone morphogenetic protein 3	gwas
SFSWAP	HGNC:10790	ENSG00000061936	Q12872	Splicing factor, suppressor of white-apricot homolog	gwas
ZEB2	HGNC:14881	ENSG00000169554	O60315	Zinc finger E-box-binding homeobox 2	gwas
DNAJB6	HGNC:14888	ENSG00000105993	O75190	DnaJ homolog subfamily B member 6	gwas
FERMT1	HGNC:15889	ENSG00000101311	Q9BQL6	Fermitin family homolog 1	gwas
TRIM29	HGNC:17274	ENSG00000137699	Q14134	Tripartite motif-containing protein 29	gwas
ACVR2A	HGNC:173	ENSG00000121989	P27037	Activin receptor type-2A	gwas
LRIG1	HGNC:17360	ENSG00000144749	Q96JA1	Leucine-rich repeats and immunoglobulin-like domains protein 1	gwas
FRAS1	HGNC:19185	ENSG00000138759	Q86XX4	Extracellular matrix organizing protein FRAS1	gwas
SMYD1	HGNC:20986	ENSG00000115593	Q8NB12	Histone-lysine N-methyltransferase SMYD1	gwas
PLXDC2	HGNC:21013	ENSG00000120594	Q6UX71	Plexin domain-containing protein 2	gwas
FSTL5	HGNC:21386	ENSG00000168843	Q8N475	Follistatin-related protein 5	gwas
EYS	HGNC:21555	ENSG00000188107	Q5T1H1	Protein eyes shut homolog	clinvar
COL9A3	HGNC:2219	ENSG00000092758	Q14050	Collagen alpha-3(IX) chain	clinvar
COL22A1	HGNC:22989	ENSG00000169436	Q8NFW1	Collagen alpha-1(XXII) chain	gwas
FAT3	HGNC:23112	ENSG00000165323	Q8TDW7	Protocadherin Fat 3	gwas
CPAMD8	HGNC:23228	ENSG00000160111	Q8IZJ3	C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8	gwas
MKX	HGNC:23729	ENSG00000150051	Q8IYA7	Homeobox protein Mohawk	gwas
CRTAP	HGNC:2379	ENSG00000170275	O75718	Cartilage-associated protein	gwas
ODAD2	HGNC:25583	ENSG00000169126	Q5T2S8	Outer dynein arm-docking complex subunit 2	gwas
AXDND1	HGNC:26564	ENSG00000162779	Q5T1B0	Axonemal dynein light chain domain-containing protein 1	gwas
DGKE	HGNC:2852	ENSG00000153933	P52429	Diacylglycerol kinase epsilon	gwas
CFAP299	HGNC:28554	ENSG00000197826	Q6V702	Cilia- and flagella-associated protein 299	gwas
OAF	HGNC:28752	ENSG00000184232	Q86UD1	Out at first protein homolog	gwas
DLG5	HGNC:2904	ENSG00000151208	Q8TDM6	Disks large homolog 5	gwas
RGL1	HGNC:30281	ENSG00000143344	Q9NZL6	Ral guanine nucleotide dissociation stimulator-like 1	gwas
CDC50CP	HGNC:30443	ENSG00000235156	A0ZSE6	Cell cycle control protein 50C	gwas
KBTBD8	HGNC:30691	ENSG00000163376	Q8NFY9	Kelch repeat and BTB domain-containing protein 8	gwas
EFEMP2	HGNC:3219	ENSG00000172638	O95967	EGF-containing fibulin-like extracellular matrix protein 2	gwas
GRM5	HGNC:4597	ENSG00000168959	P41594	Metabotropic glutamate receptor 5	gwas
LAMA2	HGNC:6482	ENSG00000196569	P24043	Laminin subunit alpha-2	gwas
MAPT	HGNC:6893	ENSG00000186868	P10636	Microtubule-associated protein tau	gwas
NDP	HGNC:7678	ENSG00000124479	Q00604	Norrin	clinvar
PTPRN2	HGNC:9677	ENSG00000155093	Q92932	Receptor-type tyrosine-protein phosphatase N2	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
COL2A1	Collagen alpha-1(II) chain	Type II collagen is specific for cartilaginous tissues.
RHO	Rhodopsin	Photoreceptor required for image-forming vision at low light intensity.
BMP2	Bone morphogenetic protein 2	Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis.
BMP3	Bone morphogenetic protein 3	Growth factor of the TGF-beta superfamily that plays an essential role in developmental process by inducing and patterning early skeletal formation and by negatively regulating bone density.
SFSWAP	Splicing factor, suppressor of white-apricot homolog	Plays a role as an alternative splicing regulator.
ZEB2	Zinc finger E-box-binding homeobox 2	Transcriptional inhibitor that binds to DNA sequence 5’-CACCT-3’ in different promoters.
DNAJB6	DnaJ homolog subfamily B member 6	Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70.
FERMT1	Fermitin family homolog 1	Involved in cell adhesion.
TRIM29	Tripartite motif-containing protein 29	Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract.
ACVR2A	Activin receptor type-2A	On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases.
LRIG1	Leucine-rich repeats and immunoglobulin-like domains protein 1	Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation.
FRAS1	Extracellular matrix organizing protein FRAS1	Involved in extracellular matrix organization.
SMYD1	Histone-lysine N-methyltransferase SMYD1	Methylates histone H3 at ‘Lys-4’ (H3K4me), seems able to perform both mono-, di-, and trimethylation.
PLXDC2	Plexin domain-containing protein 2	May play a role in tumor angiogenesis.
EYS	Protein eyes shut homolog	Required to maintain the integrity of photoreceptor cells.
COL9A3	Collagen alpha-3(IX) chain	Structural component of hyaline cartilage and vitreous of the eye.
COL22A1	Collagen alpha-1(XXII) chain	Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.
FAT3	Protocadherin Fat 3	May play a role in the interactions between neurites derived from specific subsets of neurons during development.
MKX	Homeobox protein Mohawk	May act as a morphogenetic regulator of cell adhesion.
CRTAP	Cartilage-associated protein	Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.
ODAD2	Outer dynein arm-docking complex subunit 2	Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule.
AXDND1	Axonemal dynein light chain domain-containing protein 1	May be essential for spermiogenesis and male fertility probably by regulating the manchette dynamics, spermatid head shaping and sperm flagellum assembly.
DGKE	Diacylglycerol kinase epsilon	Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids.
CFAP299	Cilia- and flagella-associated protein 299	May be involved in spermatogenesis.
DLG5	Disks large homolog 5	Acts as a regulator of the Hippo signaling pathway.
RGL1	Ral guanine nucleotide dissociation stimulator-like 1	Probable guanine nucleotide exchange factor.
KBTBD8	Kelch repeat and BTB domain-containing protein 8	Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification.
EFEMP2	EGF-containing fibulin-like extracellular matrix protein 2	Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation…
GRM5	Metabotropic glutamate receptor 5	G-protein coupled receptor for glutamate.
LAMA2	Laminin subunit alpha-2	Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
MAPT	Microtubule-associated protein tau	Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity.
NDP	Norrin	Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor.
PTPRN2	Receptor-type tyrosine-protein phosphatase N2	Plays a role in vesicle-mediated secretory processes.

Protein-family classification

Druggable: 8 · Difficult: 6 · Unknown: 23 · Druggable fraction: 0.22

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Complement	1	7.2×	0.615
Phosphatase	1	2.3×	0.615
Antibody/Immunoglobulin	2	1.6×	0.615
Kinase	2	1.5×	0.615
GPCR	2	1.3×	0.615
Other/Unknown	23	1.1×	0.615
Scaffold/PPI	2	0.9×	0.671
Transcription factor	4	0.9×	0.671

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
COL2A1	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen
RHO	GPCR	yes		GPCR_Rhodpsn, Rhodopsin, Opsin
BMP2	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
BMP3	Other/Unknown	no		TGF-b_C, TGF-beta-like, BMP3/BMP3B
SFSWAP	Other/Unknown	no		Surp, SWAP_N_domain, SWAP/Surp_sf
ZEB2	Transcription factor	no		HD, Di19_Zn-bd, Homeodomain-like_sf
DNAJB6	Other/Unknown	no		DnaJ_domain, DnaJ_domain_CS, J_dom_sf
FERMT1	Scaffold/PPI	no		PH_domain, PH-like_dom_sf, FERM_central
TRIM29	Transcription factor	no		Znf_B-box, E3_ubiq-ligase_TRIM/RNF, TRIM8/14/16/25/29/45/65_CC
ACVR2A	Kinase	yes	2.7.10.2	TGFB_receptor, Activin_recp, Prot_kinase_dom
LRIG1	Antibody/Immunoglobulin	yes		LRRNT, Cys-rich_flank_reg_C, Leu-rich_rpt
FRAS1	Other/Unknown	no		EGF, VWF_dom, Calx_beta
SMYD1	Transcription factor	no		SET_dom, Znf_MYND, TPR-like_helical_dom_sf
PLXDC2	Other/Unknown	no		Plexin_repeat, PSI, PLXDC
FSTL5	Antibody/Immunoglobulin	yes		EF_hand_dom, Kazal_dom, Ig_sub2
EYS	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G
COL9A3	Other/Unknown	no		Collagen, Collagen_superfamily
COL22A1	Other/Unknown	no		VWF_A, Collagen, ConA-like_dom_sf
FAT3	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G
CPAMD8	Complement	yes		Macroglobln_a2, Kazal_dom, MG2
MKX	Transcription factor	no		HD, KN_HD, Homeodomain-like_sf
CRTAP	Other/Unknown	no		TPR-like_helical_dom_sf, Collagen_mod_leprecan, Leprecan_dom
ODAD2	Other/Unknown	no		Armadillo, ARM-like, ARM-type_fold
AXDND1	Other/Unknown	no		Axonemal_dynein_light_chain, Axonemal_dynein_LC_domain
DGKE	Kinase	yes	2.7.1.107	Diacylglycerol_kin_accessory, Diacylglycerol_kinase_cat_dom, PKC_DAG/PE
CFAP299	Other/Unknown	no		DUF4464
OAF	Other/Unknown	no		Oaf, OAF_N, Oaf_C
DLG5	Scaffold/PPI	no		CARD, SH3_domain, PDZ
RGL1	Other/Unknown	no		RA_dom, Ras-like_Gua-exchang_fac_N, RASGEF_cat_dom
CDC50CP	Other/Unknown	no		CDC50/LEM3_fam
KBTBD8	Other/Unknown	no		BTB/POZ_dom, Kelch_1, SKP1/BTB/POZ_sf
EFEMP2	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom
GRM5	GPCR	yes		GPCR_3_mtglu_rcpt, GPCR_3_mGluR5, GPCR_3
LAMA2	Other/Unknown	no		Laminin_IV, EGF, Laminin_G
MAPT	Other/Unknown	no		MAP_tubulin-bd_rpt, Tau, MAP2/MAP4/Tau
NDP	Other/Unknown	no		Norrie_dis, Cys_knot_C, Glyco_hormone_CN
PTPRN2	Phosphatase	yes	3.1.3.48	PTP_cat, Tyr_Pase_dom, Tyr_Pase_cat

Expression context

Cohort genes with no expression data: 0.

35 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	37
unknown	0

Top tissues across cohort

Tissue	Cohort genes
tendon of biceps brachii	4
cortical plate	4
buccal mucosa cell	4
cartilage tissue	3
tibia	3
male germ line stem cell (sensu Vertebrata) in testis	3
bronchial epithelial cell	3
calcaneal tendon	3
endothelial cell	3
Brodmann (1909) area 23	3
middle temporal gyrus	3
sperm	3
pancreatic ductal cell	2
sural nerve	2
primordial germ cell in gonad	2
secondary oocyte	2
ventricular zone	2
tendon	2
stromal cell of endometrium	2
left testis	2

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
COL2A1	145	broad	marker	tibia, cartilage tissue, corpus epididymis
RHO	38	tissue_specific	marker	optic choroid, neuron projection bundle connecting eye with brain, diaphragm
BMP2	238	broad	marker	cartilage tissue, pancreatic ductal cell, pigmented layer of retina
BMP3	126	tissue_specific	marker	muscle layer of sigmoid colon, male germ line stem cell (sensu Vertebrata) in testis, rectum
SFSWAP	291	ubiquitous	marker	sural nerve, tendon of biceps brachii, olfactory bulb
ZEB2	290	ubiquitous	marker	cortical plate, sural nerve, monocyte
DNAJB6	283	ubiquitous	marker	cortical plate, primordial germ cell in gonad, ganglionic eminence
FERMT1	235	ubiquitous	marker	mucosa of sigmoid colon, colonic mucosa, gingival epithelium
TRIM29	222	broad	marker	lower esophagus mucosa, upper leg skin, gingiva
ACVR2A	282	ubiquitous	marker	buccal mucosa cell, cervix squamous epithelium, cortical plate
LRIG1	290	ubiquitous	marker	secondary oocyte, bronchial epithelial cell, ventricular zone
FRAS1	212	ubiquitous	marker	germinal epithelium of ovary, parietal pleura, renal medulla
SMYD1	145	tissue_specific	yes	left ventricle myocardium, vastus lateralis, deltoid
PLXDC2	279	ubiquitous	marker	calcaneal tendon, tendon of biceps brachii, tendon
FSTL5	126	broad	marker	cerebellar vermis, endothelial cell, pons
EYS	153	tissue_specific	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, islet of Langerhans
COL9A3	218	broad	marker	tibia, cartilage tissue, inferior vagus X ganglion
COL22A1	160	broad	marker	pituitary gland, adenohypophysis, tibia
FAT3	194	broad	marker	buccal mucosa cell, Brodmann (1909) area 23, middle temporal gyrus
CPAMD8	227	broad	marker	apex of heart, pancreatic ductal cell, right lung
MKX	183	broad	marker	calcaneal tendon, tendon, oviduct epithelium
CRTAP	288	ubiquitous	marker	tendon of biceps brachii, stromal cell of endometrium, endocervix
ODAD2	173	broad	marker	bronchial epithelial cell, right uterine tube, sperm
AXDND1	161	tissue_specific	marker	sperm, left testis, right testis
DGKE	250	ubiquitous	marker	Brodmann (1909) area 23, middle temporal gyrus, buccal mucosa cell
CFAP299	157	tissue_specific	marker	bronchial epithelial cell, bronchus, sperm
OAF	246	ubiquitous	marker	right lobe of liver, kidney epithelium, liver
DLG5	134	ubiquitous	marker	ventricular zone, left adrenal gland cortex, right adrenal gland cortex
RGL1	291	ubiquitous	marker	endothelial cell, Brodmann (1909) area 23, dorsal root ganglion
CDC50CP	88		marker	right testis, left testis, testis

Protein interactions among cohort

Intra-cohort edges: 6.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MAPT	7,289
COL22A1	4,036
RHO	3,578
DNAJB6	3,518
GRM5	3,277
ZEB2	3,193
BMP2	3,131
LAMA2	2,688
ACVR2A	2,673
FRAS1	2,552

Intra-cohort edges

A	B	Sources
ACVR2A	BMP2	biogrid_interaction
ACVR2A	BMP3	string_interaction
BMP2	COL2A1	biogrid_interaction, string_interaction
COL2A1	COL9A3	string_interaction
COL2A1	OAF	string_interaction
MKX	OAF	string_interaction

Structural data

PDB: 22 · AlphaFold-only: 15 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MAPT	P10636	293
GRM5	P41594	29
BMP2	P12643	21
NDP	Q00604	12
COL2A1	P02458	11
CRTAP	O75718	6
ACVR2A	P27037	5
RHO	P08100	4
DNAJB6	O75190	4
COL9A3	Q14050	4
PTPRN2	Q92932	3
SFSWAP	Q12872	2
LRIG1	Q96JA1	2
CFAP299	Q6V702	2
RGL1	Q9NZL6	2
LAMA2	P24043	2
BMP3	P12645	1
ZEB2	O60315	1
TRIM29	Q14134	1
ODAD2	Q5T2S8	1
DLG5	Q8TDM6	1
EFEMP2	O95967	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SMYD1	Q8NB12	93.07
KBTBD8	Q8NFY9	88.48
OAF	Q86UD1	87.93
DGKE	P52429	86.18
FSTL5	Q8N475	83.57
FERMT1	Q9BQL6	81.14
CDC50CP	A0ZSE6	77.01
CPAMD8	Q8IZJ3	72.99
AXDND1	Q5T1B0	70.90
PLXDC2	Q6UX71	69.80
MKX	Q8IYA7	63.88
COL22A1	Q8NFW1	54.25
FRAS1	Q86XX4
EYS	Q5T1H1
FAT3	Q8TDW7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 85. Enrichment computed across 37 evidence-associated genes (21 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 21 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Collagen biosynthesis and modifying enzymes	4	32.5×	5e-04	COL2A1, COL9A3, COL22A1, CRTAP
Collagen chain trimerization	3	37.1×	0.003	COL2A1, COL9A3, COL22A1
ECM proteoglycans	3	21.5×	0.010	COL2A1, COL9A3, LAMA2
MET activates PTK2 signaling	2	36.2×	0.025	COL2A1, LAMA2
Signaling by BMP	2	34.0×	0.025	BMP2, ACVR2A
Signaling by MET	2	30.2×	0.025	LRIG1, LAMA2
Molecules associated with elastic fibres	2	29.4×	0.025	BMP2, EFEMP2
Signaling by PDGF	2	24.2×	0.030	COL2A1, COL9A3
NCAM1 interactions	2	23.6×	0.030	COL2A1, COL9A3
Developmental Lineage of Pancreatic Ductal Cells	2	21.8×	0.032	COL2A1, LAMA2
Assembly of collagen fibrils and other multimeric structures	2	19.1×	0.037	COL2A1, COL9A3
Collagen degradation	2	16.7×	0.044	COL2A1, COL9A3
TGFBR3 regulates activin signaling	1	135.9×	0.048	ACVR2A
Non-integrin membrane-ECM interactions	2	14.7×	0.049	COL2A1, LAMA2
Integrin cell surface interactions	2	12.8×	0.059	COL2A1, COL9A3
Signaling by TGFB family members	2	11.0×	0.075	BMP2, ACVR2A
Opsins	1	60.4×	0.077	RHO
Formation of the posterior neural plate	1	54.4×	0.077	ZEB2
Regulation of CDH11 gene transcription	1	49.4×	0.077	ZEB2
Formation of the anterior neural plate	1	49.4×	0.077	ZEB2
Regulation of signaling by NODAL	1	45.3×	0.077	ACVR2A
Activation of the phototransduction cascade	1	45.3×	0.077	RHO
Caspase-mediated cleavage of cytoskeletal proteins	1	45.3×	0.077	MAPT
Positive Regulation of CDH1 Gene Transcription	1	45.3×	0.077	ZEB2
Signaling by Activin	1	36.2×	0.093	ACVR2A
MET promotes cell motility	1	28.6×	0.105	LAMA2
Fibronectin matrix formation	1	27.2×	0.105	COL2A1
The canonical retinoid cycle in rods (twilight vision)	1	24.7×	0.105	RHO
VxPx cargo-targeting to cilium	1	24.7×	0.105	RHO
Negative regulation of MET activity	1	24.7×	0.105	LRIG1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 31 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of long-term synaptic depression	2	217.4×	0.007	GRM5, MAPT
cellular response to BMP stimulus	3	54.4×	0.007	COL2A1, BMP2, ACVR2A
proteoglycan metabolic process	2	120.8×	0.016	COL2A1, BMP2
regulation of cellular response to heat	2	68.0×	0.037	DNAJB6, MAPT
astrocyte activation	2	64.0×	0.037	ZEB2, MAPT
negative regulation of calcium-independent cell-cell adhesion	1	543.6×	0.042	BMP2
negative regulation of timing of anagen	1	543.6×	0.042	FERMT1
mammillary axonal complex development	1	543.6×	0.042	ZEB2
sensory perception of hot stimulus	1	543.6×	0.042	GRM5
plus-end-directed organelle transport along microtubule	1	543.6×	0.042	MAPT
positive regulation of myofibroblast contraction	1	543.6×	0.042	ZEB2
regulation of blood-brain barrier permeability	1	543.6×	0.042	ZEB2
positive regulation of smooth muscle cell-matrix adhesion	1	543.6×	0.042	EFEMP2
endodermal-mesodermal cell signaling	1	271.8×	0.042	BMP2
cardiac atrium formation	1	271.8×	0.042	BMP2
cardiocyte differentiation	1	271.8×	0.042	BMP2
thermotaxis	1	271.8×	0.042	RHO
penile erection	1	271.8×	0.042	ACVR2A
zonula adherens assembly	1	271.8×	0.042	DLG5
mesenchymal cell proliferation involved in ureteric bud development	1	271.8×	0.042	BMP2
retina blood vessel maintenance	1	271.8×	0.042	NDP
positive regulation of lens fiber cell differentiation	1	271.8×	0.042	ZEB2
neurofibrillary tangle assembly	1	271.8×	0.042	MAPT
regulation of melanosome organization	1	271.8×	0.042	ZEB2
negative regulation of protein localization to mitochondrion	1	271.8×	0.042	MAPT
rod bipolar cell differentiation	1	271.8×	0.042	RHO
regulation of myofibroblast cell apoptotic process	1	271.8×	0.042	ZEB2
positive regulation of aortic smooth muscle cell differentiation	1	271.8×	0.042	EFEMP2
re-entry into mitotic cell cycle	1	181.2×	0.042	NDP
positive regulation of extracellular matrix constituent secretion	1	181.2×	0.042	BMP2

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Bevacizumab	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Minocycline, Perfluorohexyloctane, Ranibizumab.

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 34

Druggability breadth: 12 of 37 evidence-associated genes (32%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
ACVR2A	DASATINIB
MAPT	BEPRIDIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MAPT	449	4
GRM5	9	3
ACVR2A	4	4
COL2A1	0	0
RHO	0	0
BMP2	0	0
BMP3	0	0
SFSWAP	0	0
ZEB2	0	0
DNAJB6	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
DASATINIB	4	ACVR2A
BEPRIDIL	4	MAPT
PHENYLBUTAZONE	4	MAPT
CEFOTAXIME SODIUM	4	MAPT
DIENESTROL	4	MAPT
PROGESTERONE	4	MAPT
CLOTRIMAZOLE	4	MAPT
CHOLECALCIFEROL	4	MAPT
LATANOPROST	4	MAPT
CHLORTHALIDONE	4	MAPT
FLUORESCEIN	4	MAPT
OXCARBAZEPINE	4	MAPT
NABUMETONE	4	MAPT
GLIPIZIDE	4	MAPT
AMIODARONE HYDROCHLORIDE	4	MAPT
TRICLABENDAZOLE	4	MAPT
MESORIDAZINE	4	MAPT
INDIGOTINDISULFONATE	4	MAPT
TRIHEXYPHENIDYL HYDROCHLORIDE	4	MAPT
IMIPRAMINE	4	MAPT
FURAZOLIDONE	4	MAPT
DROPERIDOL	4	MAPT
ARIPIPRAZOLE	4	MAPT
RALOXIFENE HYDROCHLORIDE	4	MAPT
IDARUBICIN	4	MAPT
ACETAMINOPHEN	4	MAPT
ACITRETIN	4	MAPT
CISPLATIN	4	MAPT
CLOBETASOL PROPIONATE	4	MAPT
AMINOSALICYLIC ACID	4	MAPT

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
GRM5	465	Functional:263, Binding:201, ADMET:1
MAPT	184	Binding:180, Functional:4
ACVR2A	98	Binding:98
BMP2	22	Binding:18, Functional:4
SMYD1	3	Binding:3
COL2A1	2	Binding:2
DNAJB6	2	Binding:2
FERMT1	2	Binding:2
RHO	1	Binding:1
DGKE	1	Binding:1
KBTBD8	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ACVR2A	2.7.10.2	non-specific protein-tyrosine kinase
DGKE	2.7.1.107	diacylglycerol kinase (ATP)
PTPRN2	3.1.3.48	protein-tyrosine-phosphatase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
GRM5	465
MAPT	184

Pharmacogenomics

Cohort genes with a PharmGKB record: 36; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
DASATINIB	4	ACVR2A
BEPRIDIL	4	MAPT
PHENYLBUTAZONE	4	MAPT
CEFOTAXIME SODIUM	4	MAPT
DIENESTROL	4	MAPT
PROGESTERONE	4	MAPT
CLOTRIMAZOLE	4	MAPT
CHOLECALCIFEROL	4	MAPT
LATANOPROST	4	MAPT
CHLORTHALIDONE	4	MAPT
FLUORESCEIN	4	MAPT
OXCARBAZEPINE	4	MAPT
NABUMETONE	4	MAPT
GLIPIZIDE	4	MAPT
AMIODARONE HYDROCHLORIDE	4	MAPT
TRICLABENDAZOLE	4	MAPT
MESORIDAZINE	4	MAPT
INDIGOTINDISULFONATE	4	MAPT
TRIHEXYPHENIDYL HYDROCHLORIDE	4	MAPT
IMIPRAMINE	4	MAPT
FURAZOLIDONE	4	MAPT
DROPERIDOL	4	MAPT
ARIPIPRAZOLE	4	MAPT
RALOXIFENE HYDROCHLORIDE	4	MAPT
IDARUBICIN	4	MAPT
ACETAMINOPHEN	4	MAPT
ACITRETIN	4	MAPT
CISPLATIN	4	MAPT
CLOBETASOL PROPIONATE	4	MAPT
AMINOSALICYLIC ACID	4	MAPT

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	ACVR2A, MAPT
B	Phased (≥1) drug, not yet approved	1	GRM5
C	Druggable family + PDB, no drug	3	RHO, LRIG1, PTPRN2
D	Druggable family + AlphaFold only, no drug	3	FSTL5, CPAMD8, DGKE
E	Difficult family or no structure, no drug	28	COL2A1, BMP2, BMP3, SFSWAP, ZEB2, DNAJB6, FERMT1, TRIM29, FRAS1, SMYD1 (+18 more)

Undrugged target profiles

34 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
BMP3	0	ACVR2A
COL2A1	2	—
RHO	1	—
BMP2	22	—
SFSWAP	0	—
ZEB2	0	—
DNAJB6	2	—
FERMT1	2	—
TRIM29	0	—
LRIG1	0	—
FRAS1	0	—
SMYD1	3	—
PLXDC2	0	—
FSTL5	0	—
EYS	0	—
COL9A3	0	—
COL22A1	0	—
FAT3	0	—
CPAMD8	0	—
MKX	0	—
CRTAP	0	—
ODAD2	0	—
AXDND1	0	—
DGKE	1	—
CFAP299	0	—
OAF	0	—
DLG5	0	—
RGL1	0	—
CDC50CP	0	—
KBTBD8	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 119.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	91
PHASE4	10
PHASE2	7
PHASE3	5
PHASE1	3
EARLY_PHASE1	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06587945	PHASE4	RECRUITING	Nicotinamide Riboside Oral Supplementation in Macula Off Retinal Detachment
NCT00634972	PHASE4	TERMINATED	Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity
NCT01001429	PHASE4	COMPLETED	Dexmedetomidine Versus Propofol in Vitreoretinal Surgery
NCT01326585	PHASE4	WITHDRAWN	Study Trial of Dexamethasone Use for Alleviation of Symptoms After Scleral Buckle Eye Surgery
NCT01417572	PHASE4	UNKNOWN	Adjunctive Local Application of Lidocaine During Scleral Buckling Under General Anesthesia
NCT01995045	PHASE4	COMPLETED	Postoperative Pain Control Following Vitreoretinal Surgery
NCT02068625	PHASE4	TERMINATED	Rasagiline (Azilect) - Neuroprotection for Macula-off Retinal Detachment
NCT04346095	PHASE4	UNKNOWN	Oral Sedation in Vitreoretinal Surgery
NCT04464629	PHASE4	TERMINATED	Assessing the Efficacy and Safety of DEXTENZA in Pseudo Phakic Patients Undergoing Gas Bubble Repair and Laser Following Retinal Detachment
NCT04701593	PHASE4	COMPLETED	Using Triamcinolone Acetonide to Reduce Pain After Scleral Buckle Surgery
NCT06294847	PHASE3	RECRUITING	Ursodeoxycholic Acid (UDCA) as a Neuroprotective Adjuvant Treatment to Rhegmatogenous Retinal Detachment Surgery
NCT00000140	PHASE3	COMPLETED	The Silicone Study
NCT00000154	PHASE3	COMPLETED	Diabetic Retinopathy Vitrectomy Study (DRVS)
NCT00120445	PHASE3	COMPLETED	Comparison of Air and Expansile Gas in Pneumatic Retinopexy
NCT00403702	PHASE2/PHASE3	WITHDRAWN	Comparison High-density Silicone Oils in Retinal Detachment
NCT00404209	PHASE3	TERMINATED	Pressurized PPV 23GA Vitrectomy in Complicated Diabetic Tractional Retinal Detachment
NCT00083967	PHASE2	TERMINATED	Study of Denufosol (INS37217) in Subjects With Rhegmatogenous Retinal Detachment
NCT00690768	PHASE2	COMPLETED	Pars Plana Vitrectomy (PPV) Versus Preoperative Intravitreal Bevacizumab Plus PPV to Treat Diabetic Tractional Retinal Detachment (IBETRA)
NCT01201161	PHASE2	COMPLETED	Ranibizumab for Diabetic Traction Retinal Detachment
NCT01297816	PHASE2	UNKNOWN	Evaluation of Neuroprotective Effect of Minocycline
NCT02192970	PHASE2	COMPLETED	Bevacizumab Against Recurrent Retinal Detachment
NCT04891991	PHASE2	COMPLETED	Intravitreal Infliximab for Proliferative Vitreoretinopathy
NCT05191628	PHASE2	TERMINATED	Amniotic Membrane Visio-AMTRIX in Recurrent Macular Hole
NCT00210067	PHASE1	COMPLETED	A Study in Subjects With Retinal Detachment
NCT01261533	PHASE1	UNKNOWN	Flexibility, Efficacy, and Safety of a Foldable Capsular Vitreous Body in the Treatment of Severe Retinal Detachment
NCT01454466	PHASE1	COMPLETED	Partial Posterior Hyaloidectomy in Macular Surgery
NCT00910702	EARLY_PHASE1	COMPLETED	The Exploratory Clinical Trials for the Feasibility, Primary Safety and Efficacy of Foldable Capsular Vitreous Body
NCT06056596	EARLY_PHASE1	TERMINATED	Lamivudine and Plasma Markers of Inflammation in Retinal Detachment
NCT02423213	Not specified	RECRUITING	DISCOVER Study: Microscope-integrated Intraoperative OCT Study
NCT03713268	Not specified	RECRUITING	Intraoperative OCT Guidance of Intraocular Surgery II
NCT04129021	Not specified	RECRUITING	High Resolution, High-speed Multimodal Ophthalmic Imaging
NCT04767555	Not specified	ACTIVE_NOT_RECRUITING	Impact of ILM Peeling in RRD/ I-Peel
NCT05538156	Not specified	NOT_YET_RECRUITING	Internal Limiting Membrane Peeling in Retinal Detachment Surgery
NCT05863312	Not specified	RECRUITING	REtinal Detachment Outcomes Study
NCT06830070	Not specified	ACTIVE_NOT_RECRUITING	Subjective Pain Scoring for Subtenonal Anesthesia During Vitrectomy
NCT06985030	Not specified	ACTIVE_NOT_RECRUITING	Head Position Monitoring After Pars Planar Vitrectomy
NCT07184255	Not specified	NOT_YET_RECRUITING	Animated Video Education for Retinal Surgery
NCT07228091	Not specified	RECRUITING	Surgical Procedure Efficiency Evaluation stuDy
NCT07363889	Not specified	RECRUITING	Spring Loaded Syringe for Active Silicon Oil Extraction
NCT07500324	Not specified	RECRUITING	Proteomic Biomarker Identification in AMD, Diabetic Retinopathy and Retinal Detachment

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEXMEDETOMIDINE	4	3
BETAMETHASONE	4	1
BUPIVACAINE	4	1
DEXAMETHASONE	4	1
DORZOLAMIDE	4	1
KETOROLAC TROMETHAMINE	4	1
LIDOCAINE	4	1
MINOCYCLINE	4	1
PERFLUTREN	4	1
PREDNISOLONE ACETATE	4	1
PROPOFOL	4	1
RASAGILINE	4	1
SULFUR HEXAFLUORIDE	4	1
TRIAMCINOLONE	4	1
TRIAMCINOLONE ACETONIDE	4	1
VERTEPORFIN	4	1
DENUFOSOL TETRASODIUM	3	2
FIBRIN	3	1
LUTEIN	3	1
MEDETOMIDINE	3	1
NICOTINAMIDE RIBOSIDE	3	1
CHEMBL1230914	0	1
CHEMBL6134069	0	1
AIR, MEDICAL	-1	1