RARE DISEASERESEARCH ATLAS

ORPHA:88633

Superior limbic keratoconjunctivitis

medium confidenceDisorder

Also known as: SLK · Theodore superior limbic keratoconjunctivitis · Theodore syndrome

Publications

393

77.8th percentile

Trials

0

Interventional, condition-specific

Researchers

868

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Theodore's superior limbic keratoconjunctivitis · Theodore's syndrome · Theodores superior limbic keratoconjunctivitis · Theodores syndrome · superior limbal keratoconjunctivitis

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    393 matched papers (190 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 trialPartial

    None under the specific name; 102 for broader category keratoconjunctivitis

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?

393

393 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

393 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).

190 in the last 10 years · medium confidence · 77.8th percentile (publications denominator)

Phrase hits: 393 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

868

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
    Yokoi N10 papers · 2023

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto 6020841, Japan.

    Papers in Europe PMC
  2. 02
    NAKAMURA MASATSUGU8 papers · 2009
    Papers in Europe PMC
  3. 03
    Tsubota K7 papers · 2020

    Department of Ophthalmology (K.T., M.D., T.K.), Keio University School of Medicine, Tokyo, Japan; Department of Ophthalmology (N.Y., S.K.), Kyoto Prefectural University of Medicine, Kyoto, Japan; Eye Division (H.W.), Kansai Rosai Hospital, Amagasaki, Japan; Japanese Red Cross Gifu Hospital (T.K.), Gifu, Japan; Eye Center (M.Y.), Kyorin University School of Medicine, Tokyo, Japan; Department of Ophthalmology (H.-M.K.), Korea University Anam Hospital, Seoul, Korea; Department of Ophthalmology (H.-W.T.), Ulsan University Asan Medical Center, Seoul, Korea; Department of Ophthalmology (J.Y.H.), Seoul National University, Seoul National University Bundang Hospital, Seoul, Korea; Department of Ophthalmology (K.C.Y.), Chonnam National University Hospital, Gwangju, Korea; Department of Ophthalmology (K.Y.S.), Yonsei University Severance Hospital, Seoul, Korea; Department of Ophthalmology (X.S.), Beijing Tongren Eye Center, Beijing Institute of Ophthalmology, Beijing, China; Cornea Service (W.C.), The Affiliated Eye Hospital of Wenzhou Medical University, Menzhou, China; Zhongshan Ophthalmic Center Sun Yat-Sen University (L.L.), Guangzhou, China; Department of Ophthalmology (M.L.), Peking University International Hospital, Beijing, China; Singapore National Eye Center (L.T.), Singapore; Department of Ophthalmology (F.-R.H.), National Taiwan University Hospital, Taipei, Taiwan; Department of Ophthalmology (V.P.), Chulalongkorn University (V.P.), Bangkok, Thailand; Department of Ophthalmology (R.L.-B.-S.), University of the Philippines, Manila, Philippines; International Specialist Eye Centre/National University Hospital (T.K.Y.), Kuala Lumpur, Malaysia; and Eye Institute of Xiamen University (Z.L.), Xiamen, China; and Department of Ophthalmology (J.S.), Tokyo Dental College, Ichikawa, Japan.

    Papers in Europe PMC
  4. 04
    HIRAI SHIN-ICHIRO6 papers · 2009
    Papers in Europe PMC
  5. 05
    Hu FR6 papers · 2022

    Department of Ophthalmology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.

    Papers in Europe PMC
  6. 06
    SHIBAGAKI KEIICHI6 papers · 2009
    Papers in Europe PMC
  7. 07
    Sun YC6 papers · 2022

    Department of Ophthalmology, Taipei Tzu Chi Hospital, The Buddhist Tzu Chi Medical Foundation, New Taipei City, Taiwan.

    Papers in Europe PMC
  8. 08
    Chen WL5 papers · 2023

    Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.

    Papers in Europe PMC
  9. 09
    Kakizaki H5 papers · 2023

    Department of Ophthalmology, Aichi Medical University, Nagakute, Aichi, Japan. Electronic address: cosme@d1.dion.ne.jp.

    Papers in Europe PMC
  10. 10
    Sotozono C5 papers · 2023

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.

    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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 102 trials are registered for keratoconjunctivitis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th 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.

102 interventional trials matched keratoconjunctivitis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: keratoconjunctivitis

102

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

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.

"Superior limbic keratoconjunctivitis" OR "Theodore superior limbic keratoconjunctivitis" OR "Theodore syndrome" OR "Theodore's superior limbic keratoconjunctivitis" OR "Theodore's syndrome" OR "Theodores superior limbic keratoconjunctivitis" OR "Theodores syndrome" OR "superior limbal keratoconjunctivitis"

Run this search on Europe PMC

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

"Superior limbic keratoconjunctivitis" OR "Theodore superior limbic keratoconjunctivitis" OR "Theodore syndrome" OR "Theodore's superior limbic keratoconjunctivitis" OR "Theodore's syndrome" OR "Theodores superior limbic keratoconjunctivitis" OR "Theodores syndrome" OR "superior limbal keratoconjunctivitis"

Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"keratoconjunctivitis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SLK

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 2026-07-27T03:23:28.540Z