FSCN2

Summary

FSCN2 (fascin actin-bundling protein 2, retinal, HGNC:3960) is a protein-coding gene on chromosome 17q25.3, encoding Fascin-2 (O14926). Acts as an actin bundling protein.

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 25794 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 737 total — 3 likely-pathogenic
• Phenotypes (HPO): 34
• MANE Select transcript: NM_012418

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3960
Approved symbol	FSCN2
Name	fascin actin-bundling protein 2, retinal
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	RP30, RFSN
Ensembl gene	ENSG00000186765
Ensembl biotype	protein_coding
OMIM	607643
Entrez	25794

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000334850, ENST00000417245, ENST00000527221

RefSeq mRNA: 2 — MANE Select: NM_012418 NM_001077182, NM_012418

CCDS: CCDS45810, CCDS45811

Canonical transcript exons

ENST00000417245 — 5 exons

Exon	Start	End
ENSE00001335471	81536146	81536267
ENSE00001335476	81536875	81537130
ENSE00001335478	81528377	81529357
ENSE00001689007	81536622	81536789
ENSE00001797139	81535052	81535208

Expression profiles

Bgee: expression breadth ubiquitous, 148 present calls, max score 81.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0285 / max 13.4744, expressed in 8 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163341	0.0285	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
frontal pole	UBERON:0002795	81.91	gold quality
paraflocculus	UBERON:0005351	80.12	gold quality
middle frontal gyrus	UBERON:0002702	78.92	silver quality
endometrium epithelium	UBERON:0004811	75.94	gold quality
tendon of biceps brachii	UBERON:0008188	73.74	gold quality
body of pancreas	UBERON:0001150	73.48	gold quality
right lobe of thyroid gland	UBERON:0001119	72.40	gold quality
left lobe of thyroid gland	UBERON:0001120	71.55	gold quality
thyroid gland	UBERON:0002046	70.54	gold quality
Brodmann (1909) area 10	UBERON:0013541	70.48	gold quality
stromal cell of endometrium	CL:0002255	70.40	gold quality
buccal mucosa cell	CL:0002336	67.93	gold quality
cerebellar vermis	UBERON:0004720	64.76	gold quality
bone marrow cell	CL:0002092	64.69	silver quality
descending thoracic aorta	UBERON:0002345	63.84	gold quality
cortical plate	UBERON:0005343	63.13	gold quality
ascending aorta	UBERON:0001496	62.27	gold quality
thoracic aorta	UBERON:0001515	62.26	gold quality
pancreas	UBERON:0001264	61.77	gold quality
parotid gland	UBERON:0001831	61.07	gold quality
endocervix	UBERON:0000458	60.66	gold quality
aorta	UBERON:0000947	60.19	gold quality
right uterine tube	UBERON:0001302	60.13	gold quality
body of uterus	UBERON:0009853	60.03	gold quality
colonic epithelium	UBERON:0000397	59.84	silver quality
body of stomach	UBERON:0001161	59.78	gold quality
mucosa of stomach	UBERON:0001199	59.38	gold quality
popliteal artery	UBERON:0002250	58.84	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	58.83	gold quality
tibial artery	UBERON:0007610	58.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.35

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CRX, NRL

Literature-anchored findings (GeneRIF, showing 15)

• The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD (autosomal dominant macular degeneration) (PMID:14609921)
• The photoreceptor-specific FSCN2 gene showed a relatively high number of sequence variations. (PMID:16280978)
• The 208delG mutation in FSCN2 is not associated with hereditary retinal degeneration in the Chinese individuals examined. (PMID:17251446)
• Real-time PCR-based genotyping method developed here is useful for investigations of allelic asymmetries within genomic regions with variations found in retinitis pigmentosa and retinl degeneration. (PMID:18450588)
• In ovarian tumors fascin is associated with certain features of increased tumor aggressiveness. (PMID:18498068)
• Higher fascin scores correlated positively with tumor differentiation of esophageal SqCC. Significantly worse prognosis in patients with high scores of fascin, poor differentiation, T4 stage, positive for lymph node metastasis and distant metastasis (PMID:19207554)
• expression may play an essential role in regulation of progression of oral squamous cell carcinoma and contributes to the event of epithelial-mesenchymal transition in the early aggressiveness of OSCC (PMID:19473443)
• Fascin expression predicts survival after potentially curative resection of node-positive colon cancer. (PMID:20410808)
• The filopodium: a stable structure with highly regulated repetitive cycles of elongation and persistence depending on the actin cross-linker fascin (PMID:21975552)
• the serum fascin level is an effective indicator of tumor aggressiveness, and that it plays an important role in the prognosis of NSCLC, particularly for non-distant metastatic patients. (PMID:24070574)
• Data indicate the specific contribution of fascin and cortactin during invadopodium formation. (PMID:24414419)
• Tax-mediated transcriptional induction of Fascin requires NF-kappaB- and TRR-dependent promoter activation, and a promoter-independent, but PP2-sensitive signaling pathway. (PMID:26363219)
• diffuse expression in 82% of undifferentiated/dedifferentiated endometrial carcinomas (PMID:28272224)
• Fascin induces melanoma tumorigenesis and stemness through regulating the Hippo pathway (PMID:29970086)
• Fascin as a useful marker for cancer-associated fibroblasts in invasive lung adenocarcinoma. (PMID:34477172)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fscn2a	ENSDARG00000059574
danio_rerio	fscn2b	ENSDARG00000074396
mus_musculus	Fscn2	ENSMUSG00000025380
rattus_norvegicus	Fscn2	ENSRNOG00000036700
drosophila_melanogaster	sn	FBGN0003447

Paralogs (2): FSCN1 (ENSG00000075618), FSCN3 (ENSG00000106328)

Protein

Protein identifiers

Fascin-2 — O14926 (reviewed: O14926)

Alternative names: Retinal fascin

All UniProt accessions (1): O14926

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Stereocilium.

Tissue specificity. Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.

Disease relevance. Retinitis pigmentosa 30 (RP30) [MIM:607921] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the fascin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O14926-1	1	yes
O14926-2	2

RefSeq proteins (2): NP_001070650, NP_036550* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008999	Actin-crosslinking	Homologous_superfamily
IPR010431	Fascin	Family
IPR022768	Fascin-like_dom	Domain
IPR024703	Fascin_metazoans	Family

Pfam: PF06268

UniProt features (2 total): chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14926-F1	93.79	0.88

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea

MSigDB gene sets: 148 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, MYOGENIN_Q6, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GCANCTGNY_MYOD_Q6, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEUROGENESIS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_ACTIN_FILAMENT_ORGANIZATION, BROWNE_HCMV_INFECTION_14HR_DN, GOBP_PHOTORECEPTOR_CELL_DEVELOPMENT, MODULE_99, MYOD_Q6, GOBP_PHOTORECEPTOR_CELL_DIFFERENTIATION

GO Biological Process (8): establishment or maintenance of cell polarity (GO:0007163), visual perception (GO:0007601), anatomical structure morphogenesis (GO:0009653), cell migration (GO:0016477), actin cytoskeleton organization (GO:0030036), eye photoreceptor cell development (GO:0042462), actin filament bundle assembly (GO:0051017), actin filament organization (GO:0007015)

GO Molecular Function (4): actin binding (GO:0003779), protein-macromolecule adaptor activity (GO:0030674), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), stereocilium (GO:0032420), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Sensory processing of sound	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cellular process	1
sensory perception of light stimulus	1
developmental process	1
anatomical structure development	1
cell motility	1
cytoskeleton organization	1
actin filament-based process	1
eye photoreceptor cell differentiation	1
photoreceptor cell development	1
cellular component assembly	1
actin filament bundle organization	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cytoskeletal protein binding	1
protein binding	1
molecular adaptor activity	1
actin binding	1
protein-containing complex binding	1
binding	1
intracellular anatomical structure	1
cytoskeleton	1
stereocilium bundle	1
neuron projection	1
actin-based cell projection	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

778 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FSCN2	RP9	Q8TA86	849
FSCN2	PRPF31	Q8WWY3	838
FSCN2	NRL	P54845	812
FSCN2	PRPF3	O43395	811
FSCN2	CRX	O43186	802
FSCN2	PRPF8	Q6P2Q9	802
FSCN2	IMPDH1	P20839	799
FSCN2	GUCA1B	Q9UMX6	786
FSCN2	ROM1	Q03395	781
FSCN2	TOPORS	Q9NS56	780
FSCN2	CERKL	Q49MI3	779
FSCN2	RDH12	Q96NR8	764
FSCN2	PCARE	A6NGG8	760
FSCN2	ZNF513	Q8N8E2	751
FSCN2	PDE6A	P16499	750

IntAct

19 interactions, top by confidence:

A	B	Type	Score
PRKCA	FSCN2	psi-mi:“MI:0915”(physical association)	0.560
FSCN2	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
FSCN2	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	FSCN2	psi-mi:“MI:0915”(physical association)	0.560
LMO3	FSCN2	psi-mi:“MI:0915”(physical association)	0.560
FSCN2	QRICH1	psi-mi:“MI:0914”(association)	0.530
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): QRICH1 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), FSCN2 (Affinity Capture-RNA), TBC1D22B (Affinity Capture-MS), QRICH1 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), FSCN2 (Affinity Capture-MS)

ESM2 similar proteins: B0LPN4, E9PZQ0, E9Q401, F1LMY4, O14926, O18728, O95834, P10767, P11403, P11716, P16960, P21658, P21817, P30957, P47823, P55075, P85845, Q13144, Q16658, Q24498, Q24524, Q32M02, Q3U7R1, Q4R4H3, Q5CZL1, Q5E9M9, Q5XGM5, Q61553, Q64350, Q6P6T4, Q6P9Z4, Q6PFQ7, Q6SZW1, Q7TNG5, Q7TSA0, Q7Z6L1, Q8CHW4, Q8IXI1, Q8JZN7, Q8K2J0

Diamond homologs: O14926, O18728, P85845, Q16658, Q24524, Q32M02, Q61553, Q91837, Q05634

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	445
Likely benign	225
Benign	22

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3028481	NM_012418.4(FSCN2):c.22C>T (p.Gln8Ter)	Likely pathogenic
3028487	NM_001077182.3(FSCN2):c.827-1delG	Likely pathogenic
3028497	NM_012418.4(FSCN2):c.1415G>C (p.Gly472Ala)	Likely pathogenic

SpliceAI

671 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81535047:TCCAG:T	acceptor_loss	1.0000
17:81535050:A:T	acceptor_loss	1.0000
17:81535051:G:GA	acceptor_loss	1.0000
17:81535205:AAGT:A	donor_gain	1.0000
17:81535207:GT:G	donor_gain	1.0000
17:81535209:G:GG	donor_gain	1.0000
17:81536144:A:AG	acceptor_gain	1.0000
17:81536145:G:GC	acceptor_gain	1.0000
17:81536145:GT:G	acceptor_gain	1.0000
17:81536145:GTT:G	acceptor_gain	1.0000
17:81536145:GTTCT:G	acceptor_gain	1.0000
17:81536620:A:AG	acceptor_gain	1.0000
17:81536621:G:GG	acceptor_gain	1.0000
17:81529298:A:T	donor_gain	0.9900
17:81529338:C:G	donor_gain	0.9900
17:81529357:GGTAG:G	donor_loss	0.9900
17:81529358:G:GC	donor_loss	0.9900
17:81529359:T:A	donor_loss	0.9900
17:81535050:A:AG	acceptor_gain	0.9900
17:81535050:AG:A	acceptor_gain	0.9900
17:81535050:AGG:A	acceptor_gain	0.9900
17:81535051:G:GG	acceptor_gain	0.9900
17:81535051:GG:G	acceptor_gain	0.9900
17:81535051:GGG:G	acceptor_gain	0.9900
17:81535051:GGGGT:G	acceptor_gain	0.9900
17:81535128:G:GT	donor_gain	0.9900
17:81535204:CAAGT:C	donor_gain	0.9900
17:81535207:GTGTG:G	donor_loss	0.9900
17:81535208:TG:T	donor_loss	0.9900
17:81535210:T:TC	donor_loss	0.9900

AlphaMissense

3199 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81528922:T:A	W131R	0.993
17:81528922:T:C	W131R	0.993
17:81529193:T:C	F221S	0.992
17:81528667:T:A	W46R	0.991
17:81528667:T:C	W46R	0.991
17:81528800:T:C	F90S	0.990
17:81535162:T:A	W313R	0.988
17:81535162:T:C	W313R	0.988
17:81528829:T:A	W100R	0.985
17:81528829:T:C	W100R	0.985
17:81528964:A:C	S145R	0.984
17:81528966:C:A	S145R	0.984
17:81528966:C:G	S145R	0.984
17:81537069:T:A	W490R	0.984
17:81537069:T:C	W490R	0.984
17:81528616:T:C	F29L	0.982
17:81528618:C:A	F29L	0.982
17:81528618:C:G	F29L	0.982
17:81528924:G:C	W131C	0.981
17:81528924:G:T	W131C	0.981
17:81536690:T:C	F392L	0.981
17:81536692:C:A	F392L	0.981
17:81536692:C:G	F392L	0.981
17:81528598:T:G	Y23D	0.980
17:81536656:C:A	N380K	0.980
17:81536656:C:G	N380K	0.980
17:81528669:G:C	W46C	0.979
17:81528669:G:T	W46C	0.979
17:81535099:T:C	F292L	0.979
17:81535101:C:A	F292L	0.979

dbSNP variants (sampled 300 via entrez): RS1000078527 (17:81524473 G>A), RS1000209550 (17:81533086 C>T), RS1000308986 (17:81524789 G>A), RS1000391041 (17:81535601 C>T), RS1000501599 (17:81532138 T>C,G), RS1000564279 (17:81533313 A>G), RS1000681913 (17:81532106 A>G,T), RS1000720224 (17:81537160 G>A,C,T), RS1000772855 (17:81537516 C>G,T), RS1000772945 (17:81537049 C>A,T), RS1001097279 (17:81515429 A>G,T), RS1001198545 (17:81520044 G>A), RS1001211038 (17:81515642 T>A), RS1001263348 (17:81515476 T>A,C), RS1001347896 (17:81525281 C>T)

Disease associations

OMIM: gene MIM:607643 | disease phenotypes: MIM:607921, MIM:156000, MIM:204000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa	Supportive	Autosomal dominant
retinitis pigmentosa 30	Limited	Autosomal dominant

Mondo (6): retinitis pigmentosa 30 (MONDO:0011935), inherited retinal dystrophy (MONDO:0019118), Meniere disease (MONDO:0007972), macular degeneration (MONDO:0003004), Leber congenital amaurosis (MONDO:0018998), retinitis pigmentosa (MONDO:0019200)

Orphanet (4): Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Leber congenital amaurosis (Orphanet:65), NON RARE IN EUROPE: Menière disease (Orphanet:45360)

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000533	Chorioretinal atrophy
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels
HP:0007994	Peripheral visual field loss
HP:0008046	Abnormal retinal vascular morphology
HP:0011505	Cystoid macular edema
HP:0012426	Optic disc drusen

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010002_133	Refractive error	2.000000e-50
GCST011349_27	Gamma glutamyl transferase levels	2.000000e-10
GCST012442_6	Age-related hearing impairment	7.000000e-10
GCST90011898_59	Alanine aminotransferase levels	7.000000e-25

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D008268	Macular Degeneration	C11.768.585.439
D008575	Meniere Disease	C09.218.568.217.500
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects expression, increases expression	2
triphenyl phosphate	affects expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Catechin	affects cotreatment, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Bucladesine	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Oxygen	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
Medroxyprogesterone Acetate	affects cotreatment, increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

515 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
NCT01574313	PHASE4	COMPLETED	Effect of Stellate Ganglion Block on Meniere’s Disease
NCT02529475	PHASE4	TERMINATED	Evaluation of Inner Ear and Brain Structures With Contrast-enhanced MRI in Healthy Subjects (HYDROPS)
NCT04815187	PHASE4	ACTIVE_NOT_RECRUITING	Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere’s Disease
NCT00312351	PHASE4	TERMINATED	A Clinical Trial to Explore the Safety and Efficacy of Three Different Doses of Pegaptanib Sodium in Patients With Wet Age-Related Macular Degeneration (AMD)
NCT00324116	PHASE4	COMPLETED	Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions
NCT00327470	PHASE4	TERMINATED	An Open Label Trial to Investigate Macugen for the Preservation of Visual Function in Subjects With Neovascular AMD
NCT00533520	PHASE4	COMPLETED	Evaluation of Dosing Interval of Higher Doses of Ranibizumab
NCT00813891	PHASE4	UNKNOWN	Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration
NCT01006538	PHASE4	COMPLETED	Macular EpiRetinal Brachytherapy Versus Lucentis® Only Treatment (MERLOT)
NCT01213667	PHASE4	UNKNOWN	Genetics in Non-response to Anti-VEGF Treatment in Exudative AMD
NCT01831947	PHASE4	COMPLETED	Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration.
NCT02581891	PHASE4	COMPLETED	Managing Neovascular (Known as Wet) Age-related Macular Degeneration Over 2 Years Using Different Treatment Schedules of 2 mg Intravitreal Aflibercept Injected in the Eye
NCT02689518	PHASE4	COMPLETED	EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection
NCT03804099	PHASE4	COMPLETED	Effect Aflibercept on Ocular Perfusion
NCT07367282	PHASE4	NOT_YET_RECRUITING	Evaluate the Efficacy of Faricimab in Patients With Neovascular Age-related Macular Degeneration
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
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NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
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NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
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NCT00000145	PHASE3	COMPLETED	Age-Related Eye Disease Study (AREDS)
NCT00000150	PHASE3	COMPLETED	Submacular Surgery Trials (SST)
NCT00000152	PHASE3	UNKNOWN	Randomized Trial of Beta-Carotene and Macular Degeneration
NCT00000158	PHASE3	UNKNOWN	Macular Photocoagulation Study (MPS)
NCT00000161	PHASE3	UNKNOWN	Randomized Trials of Vitamin Supplements and Eye Disease
NCT00000162	PHASE3	COMPLETED	Branch Vein Occlusion Study
NCT00000167	PHASE3	COMPLETED	Complications of Age-Related Macular Degeneration Prevention Trial
NCT00041483	PHASE3	COMPLETED	Phase 3 Study to Evaluate Anecortave Acetate vs. Visudyne for the Treatment of the Wet Form of AMD
NCT00042211	PHASE3	COMPLETED	Preventing Depression in Patients With Macular Degeneration