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ORPHA:790

Retinoblastoma

low confidenceDisorder

Publications

71,348

Trials

88

Interventional, condition-specific

Researchers

1,263

Distinct authors in sample

Gene link

RB1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be or non , unilateral or bilateral.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

RB · retinoblastoma · retinoblastoma, malignant

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — RB1

  2. LiteraturePresent

    71,348 matched papers (31,435 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    88 matched on ClinicalTrials.gov (9 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (RB1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

71,348

71,348 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

71,348 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

31,435 in the last 10 years · low confidence

Phrase hits: 71,348 · MeSH hits: 1,588

Open Europe PMC search

Who's working on it?

1,263

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Liu Y7 papers · 2026

    Department of Biochemistry, Stanford University School of Medicine, Stanford, CA, USA.

    Papers in Europe PMC
  2. 02
    Zhang Y7 papers · 2026

    Department of Biochemistry, Stanford University School of Medicine, Stanford, CA, USA.

    Papers in Europe PMC
  3. 03
    Chen Y5 papers · 2026

    Section of Pacing and Electrophysiology, Division of Cardiology, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  4. 04
    Munier FL5 papers · 2026

    Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  5. 05
    Zhang J5 papers · 2026

    Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China.

    Papers in Europe PMC
  6. 06
    Zhang X5 papers · 2026

    Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Zhao J5 papers · 2026

    Department of Ophthalmology, Pediatric Oncology Center, Beijing Children's Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Li X4 papers · 2026

    State Key Laboratory of Pharmaceutical Biotechnology, Division of Hepatobiliary and Transplantation Surgery, Department of General Surgery Nanjing Drum Tower Hospital, Nanjing Drum Tower Hospital, the Affiliated Hospital of Medical School, Medical School, Nanjing University, Nanjing, China.

    Papers in Europe PMC
  9. 09
    Liu H4 papers · 2026

    Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Stathopoulos C4 papers · 2026

    Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

88

interventional trials for this specific condition

88 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 27 July 2026

88 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.2th percentile).

low confidence · 98.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

88 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

37 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Retinoblastoma" OR "retinoblastoma, malignant"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Retinoblastoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Retinoblastoma" OR "retinoblastoma, malignant"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 88 interventional · 37 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RB

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (71348) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:21:50.392Z