Key Takeaways
- Retinoblastoma has a worldwide incidence of approximately 8,000 new cases annually among children under 5 years
- In the United States, about 250-300 new cases of retinoblastoma are diagnosed each year, primarily in children under 5
- The incidence rate of retinoblastoma in developed countries is 1 in 15,000 to 1 in 18,000 live births
- The RB1 germline mutation carrier rate is 1 in 17,000-30,000 live births globally
- Heritable retinoblastoma accounts for 40% of cases, characterized by biallelic RB1 mutations
- Somatic RB1 mutations in both alleles cause 60% of unilateral non-familial retinoblastoma cases
- Leukocoria is the most common presenting sign in 56-80% of retinoblastoma cases
- Strabismus presents in 20-25% of retinoblastoma patients at initial diagnosis
- Fundus examination under anesthesia confirms retinoblastoma in 95% of suspected cases
- Focal therapy like laser photocoagulation is first-line for small posterior tumors <3mm
- Intra-arterial chemotherapy (IAC) achieves globe salvage in 70-90% of advanced unilateral cases
- Systemic chemotherapy with vincristine, etoposide, carboplatin (VEC) is used in 80% of bilateral cases
- 5-year overall survival for intraocular retinoblastoma is 99% in high-resource settings
- Bilateral retinoblastoma has 95% 5-year survival with modern focal therapies
- Extraocular extension drops 5-year survival to 70-80% globally
Retinoblastoma is a rare childhood eye cancer with high survival when caught early.
Diagnosis
Diagnosis Interpretation
Epidemiology
Epidemiology Interpretation
Genetics
Genetics Interpretation
Prognosis
Prognosis Interpretation
Treatment
Treatment Interpretation
Sources & References
- Reference 1NCBIncbi.nlm.nih.govVisit source
- Reference 2CANCERcancer.orgVisit source
- Reference 3PUBMEDpubmed.ncbi.nlm.nih.govVisit source
- Reference 4IARCiarc.who.intVisit source
- Reference 5AAOaao.orgVisit source
- Reference 6EMEDICINEemedicine.medscape.comVisit source
- Reference 7THELANCETthelancet.comVisit source
- Reference 8CANCERRESEARCHUKcancerresearchuk.orgVisit source
- Reference 9SEERseer.cancer.govVisit source
- Reference 10CANCERcancer.caVisit source






