RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:179

Birdshot chorioretinopathy

medium confidenceDisorder

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

Publications

1,321

92.3th percentile

Trials

1

Interventional, condition-specific

Researchers

966

Distinct authors in sample

Gene link

—

Readiness

2/6

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.”

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

    1,321 matched papers (755 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

    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)

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?

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=5449) is 41.

1,321 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).

755 in the last 10 years · medium confidence · 92.3th percentile (publications denominator)

Phrase hits: 1,321 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

966

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
    Herbort CP Jr15 papers · 2026

    Retinal and Inflammatory Eye Diseases, Centre for Ophthalmic Specialised Care (COS), Lausanne, Switzerland.

    Papers in Europe PMC
  2. 02
    Monnet D12 papers · 2026

    Department of Ophthalmology, Ophtalmopôle, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, AP-HP, Université Paris Cité, 75014 Paris, France.

    Papers in Europe PMC
  3. 03
    Brézin AP11 papers · 2026

    Department of Ophthalmology, Ophtalmopôle, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, AP-HP, Université Paris Cité, 75014 Paris, France.

    Papers in Europe PMC
  4. 04
    Foster CS11 papers · 2026

    Massachusetts Eye Research and Surgery Institution, Waltham, Massachusetts; Ocular Immunology & Uveitis Foundation, Waltham, Massachusetts; Harvard Medical School, Boston, Massachusetts. Electronic address: sfoster@mersi.com.

    Papers in Europe PMC
  5. 05
    Papasavvas I10 papers · 2026

    Retinal and Inflammatory Eye Diseases, Centre for Ophthalmic Specialised Care (COS), Lausanne, Switzerland.

    Papers in Europe PMC
  6. 06
    Thorne JE10 papers · 2026

    Wilmer Eye Institute and the Department of Ophthalmology, Johns Hopkins School of Medicine, Baltimore, Maryland, United States.

    Papers in Europe PMC
  7. 07
    Kecili S9 papers · 2026

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

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

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

    Papers in Europe PMC
  9. 09
    Pavesio C7 papers · 2026

    Department of Uveitis, Moorfields Eye Hospital, National Health Service Foundation Trust, 162 City Rd, Old Street, London, EC1V 2PD, UK. c.pavesio@nhs.net.

    Papers in Europe PMC
  10. 10
    Bodaghi B6 papers · 2025

    Ophthalmology Department, Reference Center in Rare Diseases, DHU Sight Restore, Hôpital Pitié Salpêtrière, University Paris VI, Paris, France.

    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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th 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

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.

"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