Extraocular retinoblastoma

Summary

Extraocular retinoblastoma (MONDO:0003078) is a disease and 3 clinical trials. Top therapeutic interventions include cisplatin and thiotepa. A subtype of retinoblastoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	extraocular retinoblastoma
Mondo ID	MONDO:0003078
DOID	DOID:4656
NCIT	C7848
UMLS	C0278719
MedGen	75861
GARD	0023357
Is cancer (heuristic)	no

Also known as: extraocular retinoblastoma · metastatic retinoblastoma

Disease family

This is a subtype of retinoblastoma. 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: cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › nervous system cancer › sensory system cancer › ocular cancer › retinal cancer › retinal cell cancer › retinoblastoma › extraocular retinoblastoma

Related subtypes (6): trilateral retinoblastoma, bilateral retinoblastoma, unilateral retinoblastoma, intraocular retinoblastoma, hereditary retinoblastoma, non-hereditary retinoblastoma

Subtypes (1): pediatric extraocular retinoblastoma

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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1
PHASE1	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00554788	PHASE3	COMPLETED	Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma
NCT05650749	PHASE1	RECRUITING	GPC2 CAR T Cells for Relapsed or Refractory Neuroblastoma and Metastatic Retinoblastoma
NCT00690469	Not specified	COMPLETED	Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CISPLATIN	4	1
THIOTEPA	4	1