Multifocal choroiditis

Summary

Multifocal choroiditis (MONDO:0023833) is a disease with 1 GWAS associations across 1 studies and 2 clinical trials. Top therapeutic interventions include bevacizumab and s-rolipram. A subtype of choroiditis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	multifocal choroiditis
Mondo ID	MONDO:0023833
MeSH	C537374, D000080364
ICD-11	1197219411
SNOMED CT	414783007
UMLS	C1533060
MedGen	288551
GARD	0009824
Is cancer (heuristic)	no

Data availability: 1 GWAS association (1 study).

Disease family

This is a subtype of choroiditis. 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 › disorder of orbital region › eye disorder › uveal disorder › optic choroid disorder › choroiditis › multifocal choroiditis

Related subtypes (3): infectious posterior uveitis, paraneoplastic uveitis, serpiginous choroiditis

Subtypes (1): acute posterior multifocal placoid pigment epitheliopathy

Genetics & variants

GWAS landscape

1 GWAS associations across 1 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
rs7535263	3e-08	CFH	A	0.58

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90310242	de Groot EL	2023	170	4,267	Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis.

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	1

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7535263	1	196713216	G>A,C,T	0.05	intron_variant	CFH	3e-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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00407121	PHASE3	WITHDRAWN	Intravitreal Bevacizumab for Inflammatory Neovascular Membranes
NCT01256580	Not specified	WITHDRAWN	Intravitreal Bevacizumab vs.Combination Therapy for CNV Due to Other Than AMD

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BEVACIZUMAB	4	2
S-ROLIPRAM	0	1