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ORPHA:90050

Retinopathy of prematurity

medium confidenceDisorder

Also known as: ROP · Retrolental fibroplasia

Publications

25,133

98.9th percentile

Trials

112

Interventional, condition-specific

Researchers

1,124

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Terry syndrome · retrolental fibroplasia

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    25,133 matched papers (14,177 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

    112 matched on ClinicalTrials.gov (14 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

25,133

25,133 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.

25,133 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).

14,177 in the last 10 years · medium confidence · 98.9th percentile (publications denominator)

Phrase hits: 25,133 · MeSH hits: 838

Open Europe PMC search

Who's working on it?

1,124

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
    Li J6 papers · 2026

    Key Laboratory for Biotech-Drugs of National Health Commission, Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.

    Papers in Europe PMC
  2. 02
    Campbell JP5 papers · 2026

    Casey Eye Institute, Oregon Health & Sciences University, Portland, Oregon. Electronic address: Campbelp@ohsu.edu.

    Papers in Europe PMC
  3. 03
    Chaaya C5 papers · 2026

    Department of Ophthalmology, Massachusetts Eye and Ear, Boston, Massachusetts.

    Papers in Europe PMC
  4. 04
    Coyner AS5 papers · 2026

    Casey Eye Institute, Oregon Health & Sciences University, Portland, Oregon.

    Papers in Europe PMC
  5. 05
    Hoyek S5 papers · 2026

    Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Massachusetts Eye and Ear, Boston, Massachusetts.

    Papers in Europe PMC
  6. 06
    Moshfeghi DM5 papers · 2026

    Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA. dariusm@stanford.edu.

    Papers in Europe PMC
  7. 07
    Patel NA5 papers · 2026

    Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Massachusetts Eye and Ear, Boston, Massachusetts.

    Papers in Europe PMC
  8. 08
    Li Y4 papers · 2025

    Physical Examination Center, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.

    Papers in Europe PMC
  9. 09
    Ostmo S4 papers · 2026

    Casey Eye Institute, Oregon Health & Sciences University, Portland, Oregon.

    Papers in Europe PMC
  10. 10
    Shah SV4 papers · 2026

    Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

112

interventional trials for this specific condition

112 interventional trials matched this specific condition name; 14 currently recruiting in our sample.

Data as of 27 July 2026

112 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.6th percentile).

medium confidence · 98.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

59 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.

"Retinopathy of prematurity" OR "Retinopathy of the prematurity" OR "Retrolental fibroplasia" OR "Terry syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Retinopathy of Prematurity

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

"Retinopathy of prematurity" OR "Retinopathy of the prematurity" OR "Retrolental fibroplasia" OR "Terry syndrome"

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: 112 interventional · 59 observational · 1 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: ROP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T03:32:03.732Z