RARE DISEASERESEARCH ATLAS

ORPHA:163934

Atopic keratoconjunctivitis

high confidenceDisorder

Publications

1,244

92.3th percentile

Trials

6

Interventional, condition-specific

Researchers

1,029

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.

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.

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

    1,244 matched papers (754 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

    6 matched on ClinicalTrials.gov (1 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)

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?

1,244

1,244 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.

1,244 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).

754 in the last 10 years · high confidence · 92.3th percentile (publications denominator)

Phrase hits: 1,244 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,029

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
    Leonardi A7 papers · 2025

    Department of Neurosciences & Ophthalmology, University of Padua, Padua, Italy. andrea.leonardi@unipd.it.

    Papers in Europe PMC
  2. 02
    Chen Z6 papers · 2026

    Department of Ophthalmology, The First Affiliated Hospital of Jinan University, Guangzhou, 510632, China.

    Papers in Europe PMC
  3. 03
    Ebihara N6 papers · 2026

    Department of Ophthalmology, Juntendo University Urayasu Hospital, Chiba, Japan.

    Papers in Europe PMC
  4. 04
    Uchio E6 papers · 2025

    Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan.

    Papers in Europe PMC
  5. 05
    Bansal A4 papers · 2026

    Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.

    Papers in Europe PMC
  6. 06
    Di Zazzo A4 papers · 2025

    Ophthalmology Campus Bio-Medico University, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Galluzzo M4 papers · 2025

    Department of Systems Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.

    Papers in Europe PMC
  8. 08
    Harada K4 papers · 2024

    Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan.

    Papers in Europe PMC
  9. 09
    Ozaki H4 papers · 2024

    Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan.

    Papers in Europe PMC
  10. 10
    Paller AS4 papers · 2026

    Department of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

high confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as 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.

"Atopic keratoconjunctivitis"

Run this search on Europe PMC

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

"Atopic keratoconjunctivitis"

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: 6 interventional · 2 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T08:14:44.513Z