Vitelliform macular dystrophy

Summary

Vitelliform macular dystrophy (MONDO:0000390) is a disease and 1 clinical trial. Top therapeutic interventions include sildenafil. A subtype of macular degeneration — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	vitelliform macular dystrophy
Mondo ID	MONDO:0000390
MeSH	D057826
OMIM	153840
DOID	DOID:0050661
NCIT	C118788
SNOMED CT	90036004
UMLS	C0339510
MedGen	137920
GARD	0022762
Is cancer (heuristic)	no

Also known as: macular dystrophy, vitelliform · vitelliform macular dystrophy

Data availability: 6 cell lines.

Disease family

This is a subtype of macular degeneration. 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 degeneration › macular degeneration › vitelliform macular dystrophy

Related subtypes (8): degeneration of macula and posterior pole, macular retinal edema, autosomal recessive bestrophinopathy, occult macular dystrophy, macular degeneration, early-onset, Stargardt disease, patterned macular dystrophy, isolated macular dystrophy

Subtypes (2): vitelliform macular dystrophy 2, adult-onset foveomacular vitelliform dystrophy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SILDENAFIL	4	1