Retinal edema

Summary

Retinal edema (MONDO:0004037) is a disease with 3 GWAS associations across 5 studies and 5 clinical trials. A subtype of retinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 3
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinal edema
Mondo ID	MONDO:0004037
DOID	DOID:6929
ICD-10-CM	H35.81
SNOMED CT	6141006
UMLS	C0242420
MedGen	69183
Is cancer (heuristic)	no

Data availability: 3 GWAS associations (5 studies).

Disease family

This is a subtype of retinal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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

Related subtypes (31): retinal ischemia, rubeosis iridis, retinal vascular disorder, retinitis, retinal nerve fiber layer disorder, retinal degeneration, night blindness, hypertensive retinopathy, macular holes, retinal detachment, 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 (1): macular retinal edema

Genetics & variants

GWAS landscape

3 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7903146	3e-22	TCF7L2	C	0.17
rs34872471	2e-14	TCF7L2	T	0.16
rs11148121	4e-08	PSME2P2 - FNDC3A	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475859	Verma A	2024	5,397	440,745	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477648	Verma A	2024	1,947	118,144	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480055	Verma A	2024	1,947	118,144	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477647	Verma A	2024	715	58,495	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651642	Liu TY	2025	681	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	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	3

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7903146	10	112998590	C>G,T	0.292	intron_variant	TCF7L2	3e-22	Tier 4: intronic/intergenic
rs34872471	10	112994312	T>C	0.293	intron_variant	TCF7L2	2e-14	Tier 4: intronic/intergenic
rs11148121	13	48831294	C>A,T	0.05	intergenic_variant	PSME2P2 - FNDC3A	4e-08	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2
PHASE4	1
PHASE2/PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04501367	PHASE4	UNKNOWN	Assessing the Efficacy and Safety fo DEXTENZA, Sustained Release Dexamethasone 0.4 mg Insert(s) for the Treatment of Pain, Inflammation, and Cystoid Macular Edema Following 27 Gauge Vitrectomy With Internal Limiting Membrane Peel for the Treatment of Retinal Edema Associated With Macular Pucker.
NCT01273727	PHASE2/PHASE3	COMPLETED	Ozurdex for Macular Edema Post Membrane Peeling
NCT04690608	EARLY_PHASE1	UNKNOWN	Suprachoroidal Injection of Triamcinolone Acetonide in Resistant Diabetic Macular Edema, CRVO, Pseudophakic Cystoid Macular Edema and Diabetic Macular Edema Following Pars Plana Vitrectomy
NCT01847638	Not specified	COMPLETED	Prolensa (Bromfenac) 0.07% QD vs. Ilevro (Nepafenac) 0.3% QD for Treatment of Ocular Inflammation Post Cataract Surgery
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CHEMBL15720	0	1