retinoblastoma
Findings
No curated finding names retinoblastoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
Definition from the Mondo Disease Ontology (MONDO:0008380), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- RetinoblastomaHPOHP:0009919
- Obligate (100% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- HypopyonHPOHP:0031615
- Frequent (30% to 79% of cases)
- LeukocoriaHPOHP:0000555
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Abnormal eye morphologyHPOHP:0012372
Show the remaining 15
- LeukemiaHPOHP:0001909
- Occasional (5% to 29% of cases)
- LymphomaHPOHP:0002665
- Occasional (5% to 29% of cases)
- MelanomaHPOHP:0002861
- Occasional (5% to 29% of cases)
- OsteosarcomaHPOHP:0002669
- Occasional (5% to 29% of cases)
- Red eyeHPOHP:0025337
- Occasional (5% to 29% of cases)
- Reduced visual acuityHPOHP:0007663
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RB1HGNC:9884
- Definitive · ClinGen · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: retinoblastoma
- Also called
- RBretinoblastoma, malignant