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ORPHA:179

Birdshot chorioretinopathy

medium confidenceDisorder

Also known as: Birdshot chorioretinitis · Birdshot retinochoroiditis · Birdshot retinochoroidopathy · Vitiliginous choroiditis

Publications

1,321

86.2th percentile

Trials

1

Interventional, condition-specific

Researchers

822

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

BSCR · birdshot chorioretinitis · birdshot chorioretinopathy · birdshot retinochoroiditis · birdshot retinochoroidopathy · vitiliginous choroiditis

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

    1,321 matched papers (755 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Visual impairment; Vitritis; Abnormal chorioretinal morphology) Source

  4. Animal modelPresent

    1 genotype model (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 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?

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

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

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0011599

  • Visual impairment
  • Vitritis
  • Abnormal chorioretinal morphology
  • Retinal pigment epithelial atrophy
  • Vitreous floaters

Showing 5 of 29 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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 · 4 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Fluocinolone Acetonide · therapeutic

Pathways: Adaptive Immune System; Immune System; Class I MHC mediated antigen processing & presentation; Antigen Presentation: Folding, assembly and peptide loading of class I MHC

MyDisease.info · MONDO:0011599

Literature

Is anyone studying this?

1,321

1,321 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.

1,321 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).

755 in the last 10 years · medium confidence · 86.2th percentile (publications denominator)

Phrase hits: 1,321 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

822

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
    Monnet D21 papers · 2026

    Faculty of Medicine, Paris-Descartes University, Department of Ophthalmology, Cochin Hospital AP-HP Paris, France.

    Papers in Europe PMC
  2. 02
    Brézin AP15 papers · 2026

    Université Paris Cité, Centre d'ophtalmologie de l'Assistance Publique, Hôpitaux de Paris, Paris, France.

    Papers in Europe PMC
  3. 03
    Goldstein DA12 papers · 2026

    Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

    Papers in Europe PMC
  4. 04
    Kecili S9 papers · 2026

    Université Paris Cité, Centre d'ophtalmologie de l'Assistance Publique, Hôpitaux de Paris, Paris, France.

    Papers in Europe PMC
  5. 05
    Chiquet C8 papers · 2025

    *Department of Ophthalmology, University Hospital, Grenoble, France; †UJF-Grenoble 1, Grenoble, France; ‡Quality of Care Unit, Grenoble University Hospital, France; and §Clinical Research Center, CHU de Grenoble, Grenoble, France.

    Papers in Europe PMC
  6. 06
    Foster CS8 papers · 2026

    Massachusetts Eye Research and Surgery Institution, Waltham, Massachusetts, USA.

    Papers in Europe PMC
  7. 07
    Loeliger J8 papers · 2026

    University Hospital Basel, Department of Ophthalmology, Basel, Switzerland.

    Papers in Europe PMC
  8. 08
    Thorne JE8 papers · 2026

    The Wilmer Eye Institute, Department of Ophthalmology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Epidemiology, Center for Clinical Trials and Evidence Synthesis, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland. Electronic address: jthorne@jhmi.edu.

    Papers in Europe PMC
  9. 09
    Levinson RD7 papers · 2019

    Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles.

    Papers in Europe PMC
  10. 10
    Rothova A7 papers · 2019

    Department of Ophthalmology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands; Department of Ophthalmology, Erasmus Medical Center Rotterdam, Doctor Molewaterplein 50-60, 3015 GJ Rotterdam, The Netherlands.

    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

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).

medium 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

3 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 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 Birdshot chorioretinopathy — 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.

("Birdshot chorioretinopathy" OR "Birdshot chorioretinitis" OR "Birdshot retinochoroiditis" OR "Birdshot retinochoroidopathy" OR "Vitiliginous choroiditis")

Run this search on Europe PMC

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

"Birdshot chorioretinopathy" OR "Birdshot chorioretinitis" OR "Birdshot retinochoroiditis" OR "Birdshot retinochoroidopathy" OR "Vitiliginous choroiditis"

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 · 3 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: BSCR

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 2026-07-26T12:46:46.142Z