Retinal degeneration

disease

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Also known as retina degenerationretina, Degeneration Of

Summary

Retinal degeneration (MONDO:0004580) is a disease (an umbrella term covering 6 Mondo subtypes) caused by GNAT1 (GenCC Strong), with 7 cohort genes (18 GWAS associations across 12 studies) and 69 clinical trials. Top therapeutic interventions include aflibercept, metformin, and valproic acid.

At a glance

Causal gene: GNAT1 (GenCC Strong)
Umbrella term: 6 Mondo subtypes
Cohort genes: 7
GWAS associations: 18
ClinVar variants: 8
Clinical trials: 69

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinal degeneration
Mondo ID	MONDO:0004580
MeSH	D012162
DOID	DOID:8466
NCIT	C34979
SNOMED CT	95695004
UMLS	C0035304
MedGen	48432
Is cancer (heuristic)	no

Also known as: retina degeneration · retina, Degeneration Of

Data availability: 8 ClinVar variants · 18 GWAS associations (12 studies) · 2 GenCC gene-disease records.

Disease family

An umbrella term covering 6 Mondo subtypes.

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

Subtypes (6): peripheral retinal degeneration, macular degeneration, retinoschisis, inherited retinal dystrophy, cone dystrophy 5, X-linked, cone dystrophy 1, X-linked

Genetics & variants

GWAS landscape

18 GWAS associations across 12 studies. Top hits map to 14 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs10094560	1e-27	COL22A1	C	0.16
chr1:196670757	6e-25		C	0.18
rs10922102	5e-21	CFH	C	0.13
chr8:139910411	1e-15		C	0.14
rs2724374	4e-15	MIR29B2CHG, CD46	G	0.33
rs188940293	4e-13	NPR3 - LINC02120	G	2.31
rs184710851	4e-13	LINC01036	C	2.67
rs552547322	5e-13	LINC01748 - NFIA	C	2.6
rs11187838	9e-13	PLCE1, PLCE1-AS1	G	0.1
rs35589948	1e-12	PROX1-AS1	A	0.11
rs144723593	4e-12	ZNF398	T	2.39
rs556012468	2e-11	ARSJ - UGT8	T	2.47
rs146233573	2e-11	MACROD2	A	3.59
rs375188715	2e-11	DSCR4, KCNJ6	G	2.62
rs145358702	3e-11	ICE1 - HMGB3P3	C	3.46
rs550441859	4e-11	DSTNP5 - PARD3B	G	2.81
rs376807810	3e-10	SLC28A1	?
rs80312929	2e-08	TTF2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475858	Verma A	2024	7,208	433,853	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477643	Verma A	2024	3,209	116,093	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480052	Verma A	2024	3,209	116,093	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477638	Verma A	2024	1,738	447,679	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651268	Liu TY	2025	1,354	219,284	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477642	Verma A	2024	1,204	57,511	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477637	Verma A	2024	510	121,003	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480050	Verma A	2024	510	121,003	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481904	Verma A	2024	323	59,353	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651517	Liu TY	2025	208	219,284	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	17

MAF distribution

Bucket	Variants
common (>=0.05)	7
low_freq (0.01-0.05)	0
rare (<0.01)	9
unknown	2

Functional consequences

Consequence	Count
intron_variant	10
intergenic_variant	4
unknown	2
non_coding_transcript_exon_variant	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs10094560	8	138897795	C>A,T	0.371	intron_variant	COL22A1	1e-27	Tier 4: intronic/intergenic
chr1:196670757				0.391			6e-25	Tier 4: intronic/intergenic
rs10922102	1	196699157	C>T	0.373	intron_variant	CFH	5e-21	Tier 4: intronic/intergenic
chr8:139910411				0.316			1e-15	Tier 4: intronic/intergenic
rs2724374	1	207767846	G>A,C,T	0.227	intron_variant	MIR29B2CHG, CD46	4e-15	Tier 4: intronic/intergenic
rs188940293	5	32855536	G>A,C	0.001	intron_variant	NPR3 - LINC02120	4e-13	Tier 4: intronic/intergenic
rs184710851	1	187500087	C>A,T	0.001	intron_variant	LINC01036	4e-13	Tier 4: intronic/intergenic
rs552547322	1	60793613	C>A,T	0.001	intron_variant	LINC01748 - NFIA	5e-13	Tier 4: intronic/intergenic
rs11187838	10	94278929	G>A,C,T	0.438	non_coding_transcript_exon_variant	PLCE1, PLCE1-AS1	9e-13	Tier 4: intronic/intergenic
rs35589948	1	213955870	A>C,G	0.32	intron_variant	PROX1-AS1	1e-12	Tier 4: intronic/intergenic
rs144723593	7	149143094	T>C	0	intergenic_variant	ZNF398	4e-12	Tier 4: intronic/intergenic
rs556012468	4	114161723	T>C	0.001	intergenic_variant	ARSJ - UGT8	2e-11	Tier 4: intronic/intergenic
rs146233573	20	16049888	A>G	0	3_prime_UTR_variant	MACROD2	2e-11	Tier 2: splice/UTR
rs375188715	21	37989069	G>A	0	intron_variant	DSCR4, KCNJ6	2e-11	Tier 4: intronic/intergenic
rs145358702	5	5976113	C>G,T	0	intergenic_variant	ICE1 - HMGB3P3	3e-11	Tier 4: intronic/intergenic
rs550441859	2	204400279	G>A,T	0	intergenic_variant	DSTNP5 - PARD3B	4e-11	Tier 4: intronic/intergenic
rs376807810	15	84939980	C>A,T		intron_variant	SLC28A1	3e-10	Tier 4: intronic/intergenic
rs80312929	1	117074272	A>G		intron_variant	TTF2	2e-08	Tier 4: intronic/intergenic

ClinVar germline variants

8 retrieved; paginated sample, class counts are floors:

3 pathogenic, 2 pathogenic/likely pathogenic, 2 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
996695	NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	LOC126805688	Pathogenic/Likely pathogenic	no assertion criteria provided
374139	NM_000329.3(RPE65):c.1338+1G>A	RPE65	Pathogenic	reviewed by expert panel
30261	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	TULP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
429215	NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	USH2A	Pathogenic	reviewed by expert panel
48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A	Pathogenic	criteria provided, multiple submitters, no conflicts
870334	NM_003043.6(SLC6A6):c.1196G>T (p.Gly399Val)	SLC6A6	Likely pathogenic	criteria provided, single submitter
870335	NM_003043.6(SLC6A6):c.233C>A (p.Ala78Glu)	SLC6A6	Likely pathogenic	criteria provided, single submitter
638149	NM_152558.5(IQCE):c.895_904del (p.Val301fs)	IQCE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 10 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
UBAP1L	Definitive	Autosomal recessive	inherited retinal dystrophy	3
GNAT1	Strong	Autosomal recessive	retinal degeneration	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
UBAP1L	Orphanet:1872	Cone rod dystrophy
GNAT1	Orphanet:714096	Congenital stationary night blindness, Riggs type
RPE65	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
RPE65	Orphanet:65	Leber congenital amaurosis
RPE65	Orphanet:791	Retinitis pigmentosa
TULP1	Orphanet:65	Leber congenital amaurosis
TULP1	Orphanet:791	Retinitis pigmentosa
USH2A	Orphanet:231178	Usher syndrome type 2
USH2A	Orphanet:791	Retinitis pigmentosa
IQCE	Orphanet:93334	Postaxial polydactyly type A

Cohort genes → proteins

7 cohort genes, 7 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
UBAP1L	HGNC:40028	ENSG00000246922	F5GYI3	Ubiquitin-associated protein 1-like	gencc
GNAT1	HGNC:4393	ENSG00000114349	P11488	Guanine nucleotide-binding protein G(t) subunit alpha-1	gencc
RPE65	HGNC:10294	ENSG00000116745	Q16518	Retinoid isomerohydrolase	clinvar
SLC6A6	HGNC:11052	ENSG00000131389	P31641	Sodium- and chloride-dependent taurine transporter	clinvar
TULP1	HGNC:12423	ENSG00000112041	O00294	Tubby-related protein 1	clinvar
USH2A	HGNC:12601	ENSG00000042781	O75445	Usherin	clinvar
IQCE	HGNC:29171	ENSG00000106012	Q6IPM2	IQ domain-containing protein E	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GNAT1	Guanine nucleotide-binding protein G(t) subunit alpha-1	Functions as a signal transducer for the rod photoreceptor RHO.
RPE65	Retinoid isomerohydrolase	Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins.
SLC6A6	Sodium- and chloride-dependent taurine transporter	Mediates sodium- and chloride-dependent transport of taurine.
TULP1	Tubby-related protein 1	Required for normal development of photoreceptor synapses.
USH2A	Usherin	Involved in hearing and vision as member of the USH2 complex.
IQCE	IQ domain-containing protein E	Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 5 · Druggable fraction: 0.29

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
Antibody/Immunoglobulin	1	4.2×	0.456
Enzyme (other)	1	1.7×	0.456
Other/Unknown	5	1.3×	0.456

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
UBAP1L	Other/Unknown	no		UMA, UBAP1, UBAP1_C
GNAT1	Other/Unknown	no		Gprotein_alpha_su, Gprotein_alpha_I, GproteinA_insert
RPE65	Enzyme (other)	yes	3.1.1.64	Carotenoid_Oase
SLC6A6	Other/Unknown	no		Na/ntran_symport, Na/ntran_symport_taurine, SNS_sf
TULP1	Other/Unknown	no		Tubby_C, Tubby_C_CS, Tubby-like_C
USH2A	Antibody/Immunoglobulin	yes		Laminin_G, LE_dom, FN3_dom
IQCE	Other/Unknown	no		IQ_motif_EF-hand-BS, CellDiv_DevSignal_Domain

Expression context

Cohort genes with no expression data: 0.

6 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)	7
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	2
retina	2
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
endometrium epithelium	1
frontal pole	1
neuron projection bundle connecting eye with brain	1
pigmented layer of retina	1
mucosa of paranasal sinus	1
olfactory segment of nasal mucosa	1
palpebral conjunctiva	1
primordial germ cell in gonad	1
tendon of biceps brachii	1
buccal mucosa cell	1
right lobe of liver	1
left testis	1
right testis	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
UBAP1L	171	tissue_specific	yes	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
GNAT1	97	tissue_specific	marker	neuron projection bundle connecting eye with brain, endometrium epithelium, frontal pole
RPE65	92	tissue_specific	marker	pigmented layer of retina, retina, male germ line stem cell (sensu Vertebrata) in testis
SLC6A6	265	ubiquitous	marker	mucosa of paranasal sinus, palpebral conjunctiva, olfactory segment of nasal mucosa
TULP1	134	tissue_specific	marker	primordial germ cell in gonad, tendon of biceps brachii, retina
USH2A	30	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, right lobe of liver, buccal mucosa cell
IQCE	231	ubiquitous	marker	left testis, right testis, sural nerve

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
USH2A	2,332
GNAT1	1,865
RPE65	1,414
SLC6A6	1,193
IQCE	1,124
TULP1	760
UBAP1L	164

Intra-cohort edges

A	B	Sources
GNAT1	RPE65	string_interaction
RPE65	TULP1	string_interaction

Structural data

PDB: 3 · AlphaFold-only: 4 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SLC6A6	P31641	45
TULP1	O00294	2
GNAT1	P11488	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
RPE65	Q16518	95.34
IQCE	Q6IPM2	69.36
UBAP1L	F5GYI3	66.48
USH2A	O75445

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 16. Enrichment computed across 7 evidence-associated genes (4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Activation of the phototransduction cascade	1	237.9×	0.035	GNAT1
Activation of SMO	1	158.6×	0.035	IQCE
The canonical retinoid cycle in rods (twilight vision)	1	129.8×	0.035	RPE65
SLC-mediated transport of neurotransmitters	1	102.0×	0.035	SLC6A6
Inactivation, recovery and regulation of the phototransduction cascade	1	79.3×	0.035	GNAT1
Amino acid transport across the plasma membrane	1	75.1×	0.035	SLC6A6
Visual phototransduction	1	64.9×	0.035	RPE65
Signaling by Hedgehog	1	46.0×	0.039	IQCE
R-HSA-425366	1	45.3×	0.039	SLC6A6
Hedgehog ‘on’ state	1	39.6×	0.040	IQCE
R-HSA-425393	1	32.4×	0.044	SLC6A6
Sensory Perception	1	23.8×	0.055	RPE65
SLC-mediated transmembrane transport	1	14.8×	0.081	SLC6A6
G alpha (i) signalling events	1	9.7×	0.113	GNAT1
Transport of small molecules	1	6.3×	0.160	SLC6A6
Signal Transduction	1	2.5×	0.339	IQCE

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
detection of light stimulus involved in visual perception	3	277.8×	6e-06	RPE65, TULP1, GNAT1
visual perception	4	45.4×	2e-05	RPE65, TULP1, USH2A, GNAT1
retina homeostasis	2	321.0×	3e-04	RPE65, TULP1
eye photoreceptor cell development	2	240.7×	4e-04	TULP1, GNAT1
photoreceptor cell maintenance	2	102.4×	0.002	TULP1, USH2A
negative regulation of cyclic-nucleotide phosphodiesterase activity	1	2407.4×	0.003	GNAT1
zeaxanthin biosynthetic process	1	2407.4×	0.003	RPE65
background adaptation	1	1203.7×	0.006	GNAT1
dopamine secretion	1	802.5×	0.007	GNAT1
retinal cone cell differentiation	1	802.5×	0.007	GNAT1
neural tissue regeneration	1	601.9×	0.007	GNAT1
import across plasma membrane	1	601.9×	0.007	SLC6A6
G protein-coupled opsin signaling pathway	1	481.5×	0.007	GNAT1
maintenance of animal organ identity	1	481.5×	0.007	USH2A
inner ear receptor cell differentiation	1	481.5×	0.007	USH2A
visual behavior	1	401.2×	0.007	GNAT1
taurine transmembrane transport	1	401.2×	0.007	SLC6A6
gamma-aminobutyric acid import	1	401.2×	0.007	SLC6A6
vitamin A metabolic process	1	343.9×	0.007	RPE65
alanine transport	1	343.9×	0.007	SLC6A6
sensory perception of umami taste	1	343.9×	0.007	GNAT1
protein localization to photoreceptor outer segment	1	343.9×	0.007	TULP1
phagocytosis, recognition	1	300.9×	0.008	TULP1
hair cell differentiation	1	300.9×	0.008	USH2A
sensory perception of light stimulus	1	267.5×	0.008	USH2A
retinal rod cell differentiation	1	267.5×	0.008	GNAT1
regulation of opsin-mediated signaling pathway	1	240.7×	0.008	GNAT1
phototransduction, visible light	1	185.2×	0.010	GNAT1
cellular response to electrical stimulus	1	185.2×	0.010	GNAT1
inner ear auditory receptor cell differentiation	1	172.0×	0.011	USH2A

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 6

Druggability breadth: 2 of 7 evidence-associated genes (29%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC6A6	1	3
UBAP1L	0	0
GNAT1	0	0
RPE65	0	0
TULP1	0	0
USH2A	0	0
IQCE	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TAURINE	3	SLC6A6

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
SLC6A6	5	Binding:4, Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RPE65	3.1.1.64, 5.3.3.22	retinoid isomerohydrolase, lutein isomerase

Pharmacogenomics

Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

1 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)
TAURINE	3	SLC6A6

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	SLC6A6
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	2	RPE65, USH2A
E	Difficult family or no structure, no drug	4	UBAP1L, GNAT1, TULP1, IQCE

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
UBAP1L	0	—
GNAT1	0	—
RPE65	0	—
TULP1	0	—
USH2A	0	—
IQCE	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 69.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	35
PHASE1/PHASE2	11
PHASE1	8
PHASE2	7
PHASE3	3
EARLY_PHASE1	3
PHASE4	1
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00716586	PHASE4	COMPLETED	Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration
NCT06305416	PHASE3	RECRUITING	A Efficacy and Safety Study of Ranibizumab 10mg/ml Injection (Incepta) in Patients With Diabetic Macular Edema
NCT02157077	PHASE3	COMPLETED	Aflibercept After Ranibizumab in Exudative Age-related Macular Degeneration
NCT03954626	PHASE3	COMPLETED	Study to Collect Safety and ECG Data on Brolucizumab 6 mg Intravitreal Treatment in Patients With Wet AMD
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT05474729	PHASE1/PHASE2	RECRUITING	Minocycline for Chronic Autoimmune Uveitis
NCT06789445	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07174687	PHASE2	RECRUITING	SGLT2 Inhibitors in Geographic Atrophy
NCT00643747	PHASE1/PHASE2	COMPLETED	Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis
NCT01278277	PHASE1/PHASE2	UNKNOWN	Saffron Supplementation in Stargardt’s Disease
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01494805	PHASE1/PHASE2	COMPLETED	Safety and Efficacy Study of rAAV.sFlt-1 in Patients With Exudative Age-Related Macular Degeneration
NCT02144103	PHASE1/PHASE2	UNKNOWN	Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration
NCT02348359	PHASE2	TERMINATED	X-82 to Treat Age-related Macular Degeneration
NCT03846193	PHASE1/PHASE2	TERMINATED	FOCUS: A Phase I/II First in Human Study to Evaluate the Safety and Efficacy of GT005 Administered in Subjects With Dry AMD
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04643886	PHASE2	TERMINATED	A Multiple Dose Study of Repeat Intravitreal Injections of GEM103 in Dry Age-related Macular Degeneration
NCT04684394	PHASE2	TERMINATED	A Multiple Dose Study of Repeat Intravitreal Injections of GEM103 in Neovascular Age-related Macular Degeneration
NCT04919473	PHASE1/PHASE2	COMPLETED	Dose-Escalation Study to Evaluate the Safety and Tolerability of Intravitreal vMCO-I in Patients With Advanced Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT06011798	PHASE2	COMPLETED	Assess the Efficacy and Safety of Repeat Intravitreal Injections of Foselutoclax (UBX1325) in Patients With DME (ASPIRE)
NCT00877032	PHASE1	COMPLETED	Safety And Tolerability Study Of RN6G In Patients With Dry, Age-Related Macular Degeneration
NCT01003691	PHASE1	COMPLETED	Safety And Tolerability Study Of RN6G In Subjects With Advanced Dry, Age-Related Macular Degeneration Including Geographic Atrophy
NCT01024998	PHASE1	COMPLETED	Safety and Tolerability Study of AAV2-sFLT01 in Patients With Neovascular Age-Related Macular Degeneration (AMD)
NCT02330978	PHASE1	COMPLETED	Intravitreal Mesenchymal Stem Cell Transplantation in Advanced Glaucoma.
NCT02543229	PHASE1	COMPLETED	Study Evaluating the Safety, Pharmacokinetics and Pharmacodynamics of OPT-302 With or Without Lucentis™ in Patients With Wet AMD
NCT03772938	PHASE1	UNKNOWN	Stem Cells Therapy in Degenerative Diseases of the Retina
NCT04246866	PHASE1	COMPLETED	First in Human Study to Evaluate the Safety and Tolerability of GEM103 in Geographic Atrophy Secondary to Dry Age Related Macular Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT06289452	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study of IVB102 Injection in Subjects With X-linked Retinoschisis
NCT07269665	EARLY_PHASE1	NOT_YET_RECRUITING	First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
NCT03078309	EARLY_PHASE1	UNKNOWN	The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients
NCT01432847	Not specified	RECRUITING	Cell Collection to Study Eye Diseases
NCT01736293	Not specified	ACTIVE_NOT_RECRUITING	Natural History of Eye Diseases Related to ABCA4 Mutations
NCT02617966	Not specified	RECRUITING	Rod and Cone Mediated Function in Retinal Disease
NCT04129021	Not specified	RECRUITING	High Resolution, High-speed Multimodal Ophthalmic Imaging
NCT04765345	Not specified	ACTIVE_NOT_RECRUITING	Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F
NCT05355415	Not specified	RECRUITING	Adaptive Optics Imaging of Outer Retinal Diseases

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
AFLIBERCEPT	4	3
METFORMIN	4	1
VALPROIC ACID	4	1
SOZINIBERCEPT	3	1
LUSACOMFAR ALFA	2	3
BRINRETIGENE VESGEDPARVOVEC	2	1
FOSELUTOCLAX	2	1
SEPOFARSEN	2	1
X-82	2	1

Cohort genes: UBAP1L, GNAT1, RPE65, SLC6A6, TULP1, USH2A, IQCE
Drugs: Aflibercept, Metformin, Valproic Acid, Sozinibercept