Retinal vascular disorder

Summary

Retinal vascular disorder (MONDO:0002311) is a disease (an umbrella term covering 12 Mondo subtypes) with 2 GWAS associations across 6 studies and 7 clinical trials. Top therapeutic interventions include verteporfin. A subtype of retinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 12 Mondo subtypes
• GWAS associations: 2
• Clinical trials: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinal vascular disorder
Mondo ID	MONDO:0002311
DOID	DOID:2462
NCIT	C35170
SNOMED CT	57534004
UMLS	C0154833
MedGen	57824
Anatomy (UBERON)	UBERON:0004864
Is cancer (heuristic)	no

Also known as: retinal vascular disorder

Data availability: 2 GWAS associations (6 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 vascular disorder

Related subtypes (31): retinal ischemia, rubeosis iridis, retinitis, retinal nerve fiber layer disorder, retinal edema, 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 (12): retinal microaneurysm, retinal vascular occlusion, retinal hemangioblastoma, retinal telangiectasia, diabetic retinopathy, retinal vasculitis, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, familial retinal arterial macroaneurysm, vasoproliferative tumor of retina, exudative vitreoretinopathy, arteriosclerotic retinopathy, perifoveal exudative vascular anomalous complex

Genetics & variants

GWAS landscape

2 GWAS associations across 6 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7923396	2e-11	SH3PXD2A	T	0.08
rs183047347	2e-08	ZNF407	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477641	Verma A	2024	12,226	430,067	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477640	Verma A	2024	3,412	116,100	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480051	Verma A	2024	3,412	116,100	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477639	Verma A	2024	1,221	57,735	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435969	Zhou W	2018	849	396,859	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651523	Liu TY	2025	616	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	2

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7923396	10	103758930	T>A,C	0.452	intron_variant	SH3PXD2A	2e-11	Tier 4: intronic/intergenic
rs183047347	18	74800896	G>A		intron_variant	ZNF407	2e-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: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06520410	PHASE4	RECRUITING	Safety and Efficacy of 18 mm Short Vitrectomy Probe for Pediatric Vitreoretinal Surgeries
NCT04505618	Not specified	RECRUITING	Optical Coherence Tomography Angiography in Subjects With Retinal Vascular Disease
NCT06796673	Not specified	ENROLLING_BY_INVITATION	Retina BioBank: Retina Biomarkers for a Deeper Understanding of Vitreoretinal and Systemic Diseases
NCT06989996	Not specified	NOT_YET_RECRUITING	Study of Human Ocular Hemodynamics by Holography Dopple
NCT01974622	Not specified	UNKNOWN	ICG-Guided Photodynamic Therapy for Treatment of Retinal Capillary Abnormalities: A Pilot Study
NCT02827071	Not specified	TERMINATED	Ocular Imaging Study Using Advanced OCT
NCT03864380	Not specified	COMPLETED	Analysis of the Variation of the Retinal Vascularization After a Prolonged Effort

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
VERTEPORFIN	4	1