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ORPHA:233

Duane retraction syndrome

medium confidenceDisorder

Also known as: DRS · DURS · Duane syndrome · Stilling-Turk-Duane syndrome

Publications

1,733

85.7th percentile

Trials

0

Interventional, condition-specific

Researchers

715

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, ocular cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.

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 (1)

Duane's syndrome

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,733 matched papers (689 in last 10 years) Source

  3. Phenotype characterisedPresent

    78 HPO annotations (e.g. Palpebral fissure narrowing on adduction; Impaired convergence; Strabismus) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

78

Associated phenotypes · MONDO:0007473

  • Palpebral fissure narrowing on adduction
  • Impaired convergence
  • Strabismus
  • Abnormality of eye movement
  • Oculomotor apraxia

Showing 5 of 78 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

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

CTD chemicals (MyDisease.info)

1 associated chemical · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Thalidomide · marker/mechanism

Pathways: Developmental Biology; Signal Transduction; Signaling by Rho GTPases; Rho GTPase cycle; POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation; Transcriptional regulation of pluripotent stem cells; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activation of HOX genes during differentiation

MyDisease.info · MONDO:0007473

Literature

Is anyone studying this?

1,733

1,733 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.

1,733 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).

689 in the last 10 years · medium confidence · 85.7th percentile (publications denominator)

Phrase hits: 1,733 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

715

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Kekunnaya R16 papers · 2026

    Jasti V Ramanamma Children’s Eye Care Center and Department of Epidemiology and Biostatistics, L V Prasad Eye Institute, KAR Campus, Banjara Hills, Hyderabad, India. drrk123@gmail.com

    Papers in Europe PMC
  2. 02
    Akbari MR12 papers · 2026

    Translational Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  3. 03
    Sachdeva V11 papers · 2026

    Nimmagada Prasad Children's Eye Care Centre, GMRV Campus, L V Prasad Eye Institute, Visakhapatnam, Andhra Pradesh, India.

    Papers in Europe PMC
  4. 04
    Khan AO7 papers · 2016

    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  5. 05
    Khorrami-Nejad M7 papers · 2026

    School of Rehabilitation, Tehran University of Medical Sciences, Tehran, Iran; Translational Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: dr.khorraminejad@gmail.com.

    Papers in Europe PMC
  6. 06
    Oystreck DT7 papers · 2016

    1Department of OphthalmologyCollege of MedicineKing Saud UniversityRiyadh,Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Abu-Amero KK6 papers · 2016

    Department of Ophthalmology, College of Medicine, King Saud University , Riyadh , Saudi Arabia .

    Papers in Europe PMC
  8. 08
    Bosley TM6 papers · 2016

    1Department of OphthalmologyCollege of MedicineKing Saud UniversityRiyadh,Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Masoomian B6 papers · 2025

    Translational Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  10. 10
    Mirmohammadsadeghi A6 papers · 2024

    Translational Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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.

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 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 Duane retraction syndrome — 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.

("Duane retraction syndrome" OR "Duane syndrome" OR "Stilling-Turk-Duane syndrome" OR "Duane's syndrome")

Run this search on Europe PMC

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

"Duane retraction syndrome" OR "Duane syndrome" OR "Stilling-Turk-Duane syndrome" OR "Duane's syndrome"

Study-type breakdown: 0 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: DRS; DURS

Confidence reasoning

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

Ingested 2026-07-26T13:00:39.735Z