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ORPHA:90050

Retinopathy of prematurity

medium confidenceDisorder

Also known as: ROP · Retrolental fibroplasia

Publications

25,133

97.8th percentile

Trials

112

Interventional, condition-specific

Researchers

1,124

Distinct authors in sample

Gene link

—

Readiness

4/6

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.”

4/6 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 characterisedPresent

    15 HPO annotations (e.g. Abnormal retinal vascular morphology; Retinopathy of prematurity; Strabismus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    6 FDA · 7 EMA designations (6 FDA orphan-indication approvals) — e.g. Melatonin Source

  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)

15

Associated phenotypes · MONDO:0006952

  • Abnormal retinal vascular morphology
  • Retinopathy of prematurity
  • Strabismus
  • Myopia
  • Glaucoma

Showing 5 of 15 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

13

Designations · 6 with FDA orphan-indication approval

  • FDA MelatoninRetinopathy of Prematurity · 2020-04-20 · Not FDA Approved for Orphan Indication
  • FDA Sodium (4Z,7Z,10R,11E,13E,15Z,17S,19Z) 10,17-dihydroxy-docosa-4,7,11,13,15,19-hexaenoateRetinopathy of Prematurity · 2020-03-30 · Not FDA Approved for Orphan Indication
  • FDA PropranololRetinopathy of Prematurity · 2019-08-23 · Not FDA Approved for Orphan Indication
  • FDA afliberceptRetinopathy of Prematurity · 2019-07-23 · Not FDA Approved for Orphan Indication
  • FDA mecasermin rinfabateRetinopathy of Prematurity · 2012-09-20 · Not FDA Approved for Orphan Indication
  • FDA myo-inositolRetinopathy of Prematurity · 2005-04-07 · Not FDA Approved for Orphan Indication
  • EMA sodium (4Z,7Z,10R,11E,13E,15Z,17S,19Z)10,17-dihydroxy-docosa-4,7,11,13,15,19-hexaenoatePrevention of retinopathy of prematurity · 21/06/2022 · PositiveEMA designation
  • EMA melatoninPrevention of retinopathy of prematurity · 21/06/2021 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

22

Drugs / clinical candidates · MONDO_0006952

CTD chemicals (MyDisease.info)

3 associated chemicals · 19 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Riluzole · therapeutic
  • Vitamin E · therapeutic
  • Oxygen · marker/mechanism

Pathways: Renin-angiotensin system; Renin secretion; Metabolism; Signal Transduction; PPARA activates gene expression; Metabolism of Angiotensinogen to Angiotensins; Peptide hormone metabolism; Signaling by GPCR

MyDisease.info · MONDO:0006952

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=3967) is 59.

25,133 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

14,177 in the last 10 years · medium confidence · 97.8th 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 11 September 2026

112 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 57 · after dedupe 56 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 56 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (56)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Retinopathy of prematurity — check Associations / patient organisations on that page.

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