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ORPHA:891

Familial exudative vitreoretinopathy

low confidenceDisorder

Also known as: Criswick-Schepens syndrome · FEVR

Publications

1,859

Trials

1

Interventional, condition-specific

Researchers

845

Distinct authors in sample

Gene link

CTNNB1, RCBTB1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Familial exudative vitreoretinopathy (FEVR) is a rare vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

familial exudative vitreoretinopathy

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CTNNB1, RCBTB1

  2. LiteraturePresent

    1,859 matched papers (1,257 in last 10 years) Source

  3. Phenotype characterisedPresent

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

  4. Animal modelPresent

    19 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Norrin (25-133), Lys86Pro Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (CTNNB1, RCBTB1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

239

Associated phenotypes · MONDO:0019516

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

Showing 5 of 239 — open Monarch for the full list.

Animal models (Monarch / Alliance)

19

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA Norrin (25-133), Lys86ProTreatment of familial exudative vitreoretinopathy · 10/12/2021 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,859

1,859 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,859 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).

1,257 in the last 10 years · low confidence

Phrase hits: 1,616 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

845

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
    Zhao P14 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Berrocal AM11 papers · 2026

    University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, USA.

    Papers in Europe PMC
  3. 03
    Li S11 papers · 2026

    Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

    Papers in Europe PMC
  4. 04
    Wang Y10 papers · 2025

    State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Zhang S9 papers · 2026

    Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Huanghe Road, Yinchuan, 750011, Ningxia, China.

    Papers in Europe PMC
  6. 06
    Zhang X9 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
    Kondo H8 papers · 2026

    Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.

    Papers in Europe PMC
  8. 08
    Li J8 papers · 2026

    Third Clinical Medical College of Ningxia Medical University, Shengli Street, Yinchuan, 750004, Ningxia, China.

    Papers in Europe PMC
  9. 09
    Yang M8 papers · 2026

    Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

    Papers in Europe PMC
  10. 10
    Yang Z8 papers · 2026

    Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Familial exudative vitreoretinopathy — 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.

("Familial exudative vitreoretinopathy" OR "Criswick-Schepens syndrome") OR ("RCBTB1" OR "RCBTB1 syndrome" OR "RCBTB1-related")

Run this search on Europe PMC

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

"Familial exudative vitreoretinopathy" OR "Criswick-Schepens syndrome"

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

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FEVR

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
  • Publication count (1859) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:47:26.465Z