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Retinoblastoma — master index¶
Last curated: 2026-09-01 · status: audited (built by codex, independently audited by claude on 2026-09-01; all 19 pages promoted to curated)
The condition in five sentences. Retinoblastoma is a malignant tumour of the developing retina, diagnosed in approximately 8,000 children annually, usually after both RB1 alleles are inactivated in a susceptible cone-lineage cell (Dimaras 2015, PMID 27189421). Knudson inferred the two-hit model from 48 cases, making this childhood eye cancer foundational to tumour-suppressor biology (Knudson 1971, PMID 5279523). In 4,064 children from 149 countries, three-year survival was 99.5% (95% CI 98.8–100.0) in high-income and 57.3% (52.1–63.0) in low-income countries, tracking cT4 presentation of 0.8% versus 42.9% (Global Study Group 2022, PMID 35839812). Treatment orders life, globe and then useful vision through enucleation, systemic/focal therapy, IAC and intravitreal therapy. Heritable survivors—not survivors as one undifferentiated group—had overall subsequent-malignancy SIR 11.9 and 33.1% cumulative incidence at 50 years, while non-heritable survivors had SIR 0.8 (Schonfeld 2021, PMID 33473166).
Start here: overview. Research frontier: OPEN-QUESTIONS.md. Growth history: LOG.md.
At a glance¶
| Layer | Built content |
|---|---|
| Canonical wiki pages | 19/19, all curated |
| Distinct live-resolved PMIDs cited | 367, all re-fetched at audit (367 in wiki pages) |
| Distinct live-resolved NCT IDs cited | 12, all re-queried at audit |
| Landmark paper notes | 5 |
| Guideline/consensus/review records catalogued | 10 |
| Verified patient organizations | 4 |
| Open questions | 20 (12 Tier 1, 8 Tier 2) |
| Dots-not-yet-connected junctions | 14 |
| Claim→citation pairs checked at audit | 800 reference lines, 1,385 inline citations, 214 quantitative bullets, 145 statistics rows |
Reading paths¶
| Need | Path |
|---|---|
| Rapid orientation | Overview → presentation/diagnosis → red flags |
| Genetics and family risk | RB1 genetics → testing/counselling → survivorship |
| Intraocular treatment | Classification → systemic chemotherapy → IAC → intravitreal/intracameral |
| Advanced disease | Enucleation/pathology → extraocular/metastatic/trilateral |
| Global outcomes | Epidemiology → access disparity → patient experience |
| Research design | Molecular pathogenesis → trial landscape → open questions |
Shared border with melanoma¶
The border is heritable retinoblastoma, not retinoblastoma survivorship as a whole. Schonfeld reports any-SMN SIR 11.9 (95% CI 10.4–13.5) in heritable and 0.8 (0.5–1.2) in non-heritable survivors; melanoma risk is significantly increased in the heritable group, while 3.1–17 is a range across melanoma, CNS, oral-cavity and breast sites rather than a melanoma-specific point estimate (PMID 33473166). A separate Danish cohort estimated melanoma SIR 26.78 (95% CI 9.78–58.30), and that figure is attributed only to that cohort (Gregersen 2020, PMID 33090227). Cross-links: melanoma germline predisposition and melanoma special populations. Retinoblastoma in children and uveal melanoma in adults remain separate by age and biology.
Pages¶
| File | Scope | Status |
|---|---|---|
| overview.md | condition map, two-hit history, treatment and inequity | curated |
| epidemiology-and-global-burden.md | incidence, age, laterality, income-stratified survival | curated |
| rb1-genetics-and-heritability.md | two-hit model, germline/somatic, mosaicism, 13q | curated |
| genetic-testing-and-counselling.md | assay design, cascade and reproductive counselling | curated |
| molecular-pathogenesis-and-cell-of-origin.md | cone lineage, progression, MYCN/RB1-wild-type | curated |
| clinical-presentation-and-diagnosis.md | leukocoria, strabismus, EUA, imaging, biopsy boundary | curated |
| classification-and-staging.md | ICRB/IIRC, cTNMH and IRSS | curated |
| systemic-chemotherapy.md | VEC/CEV, chemoreduction and adjuvant therapy | curated |
| intra-arterial-chemotherapy.md | OAC/IAC efficacy, vascular toxicity and access | curated |
| intravitreal-and-intracameral-chemotherapy.md | vitreous/aqueous seeds and injection safety | curated |
| focal-therapy-and-brachytherapy.md | laser, cryotherapy, thermotherapy and plaque | curated |
| enucleation-and-high-risk-pathology.md | indications, histopathology, adjuvant therapy, prosthesis | curated |
| extraocular-metastatic-and-trilateral-disease.md | orbital/systemic/CNS spread and trilateral disease | curated |
| second-cancers-and-survivorship.md | heritability-stratified SMN risk and surveillance | curated |
| global-access-and-outcome-disparity.md | stage, delay, abandonment and systems | curated |
| vision-outcomes-and-patient-experience.md | useful vision, QOL, eye loss and family experience | curated |
| guidelines.md | document synthesis and disagreements | curated |
| clinical-trials-landscape.md | live NCT status and trial gaps | curated |
| red-flags-and-safety-concerns.md | diagnostic/procedural/survivorship safety | curated |
Literature layer¶
| Resource | Contents | Status |
|---|---|---|
| BIBLIOGRAPHY.md | 365 wiki-cited live-resolved PMIDs grouped and cross-indexed | curated |
| notes/ | five landmark notes | curated |
| guidelines/REGISTRY.md | guideline lineages, disagreements and watch list | curated |
| statistics/STATISTICS.md | 90+ sourced quantitative rows | curated |
| patient-voice/README.md | method and ethics | curated |
| patient-voice/organizations.md | four verified organizations | curated |
| patient-voice/themes.md | seven aggregate themes | curated |
| patient-voice/sources.md | annotated sources and exclusions | curated |
Curation state¶
Built by codex on 2026-09-01 and independently audited by claude on 2026-09-01. Every one of the 367 cited PubMed identifiers was re-fetched live at audit; all resolved, and author, year, journal and title matched the citation as written in all 800 numbered reference lines and 1,385 inline citations. All 12 ClinicalTrials.gov identifiers were re-queried against the v2 API and their recorded status and phase matched the live registry. Three off-topic records that had entered by title indexing (two palbociclib trials in glioma/oligodendroglioma, one RB1-in-multiple-myeloma review) were removed, a fourth (a neuroblastoma cell-line study) was relabelled as mechanistic background, three fabricated DOIs in landmark notes were corrected, and one citation that existed only in OPEN-QUESTIONS.md was given a wiki home and catalogued. All 19 pages are curated.
Verification is abstract-level throughout: no claim on these pages depends on full text beyond the abstract of the record it cites.