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ORPHA:171673

Limbal stem cell deficiency

high confidenceDisorder

Publications

3,518

95.9th percentile

Trials

25

Interventional, condition-specific

Researchers

946

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, , or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).

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

    3,518 matched papers (2,453 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

    25 matched on ClinicalTrials.gov (4 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?

3,518

3,518 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.

3,518 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).

2,453 in the last 10 years · high confidence · 95.9th percentile (publications denominator)

Phrase hits: 3,518 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

946

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
    Palamar M8 papers · 2026

    Ege University Faculty of Medicine, Department of Ophthalmology, İzmir, Türkiye.

    Papers in Europe PMC
  2. 02
    Basu S7 papers · 2026

    From the Shantilal Shanghvi Cornea Institute, L V Prasad Eye Institute (S.S.S, S.G, S.B.), Hyderabad, Telangana, India.; Centre for Ocular Regeneration (CORE), Prof. Brien Holden Eye Research Centre (BHERC), L V Prasad Eye Institute (S.B.), Hyderabad, Telangana, India. Electronic address: sayanbasu@lvpei.org.

    Papers in Europe PMC
  3. 03
    Gurnani B7 papers · 2026

    Gomabai Netralaya and Research Centre

    Papers in Europe PMC
  4. 04
    Barut Selver O6 papers · 2026

    Department of Ophthalmology, Ege University Medical Faculty Hospital, 35100, Izmir, Turkey. ozlembarutselver@gmail.com.

    Papers in Europe PMC
  5. 05
    Deng SX6 papers · 2026

    From the Stein Eye Institute (D.N., C.B., S.S.M.F., R.U., S.X.D.), David Geffen School of Medicine at UCLA, Los Angeles, California, USA; Molecular Biology Institute (S.X.D.), University of California, Los Angeles, California, USA. Electronic address: deng@jsei.ucla.edu.

    Papers in Europe PMC
  6. 06
    Bonnet C5 papers · 2026

    From the Stein Eye Institute (D.N., C.B., S.S.M.F., R.U., S.X.D.), David Geffen School of Medicine at UCLA, Los Angeles, California, USA; Centre de Recherche des Cordeliers (C.B.), INSERM 1138, Paris Cité Université, AP-HP, F-75014, Paris, France.

    Papers in Europe PMC
  7. 07
    Di Girolamo N5 papers · 2026

    Mechanisms of Disease and Translational Research, School of Biomedical Sciences, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia.

    Papers in Europe PMC
  8. 08
    Figueiredo FC5 papers · 2026

    Royal Victoria Infirmary, Newcastle upon Tyne, UK. Francisco.figueiredo@newcastle.ac.uk.

    Papers in Europe PMC
  9. 09
    Holland EJ5 papers · 2026

    Department of Ophthalmology, University of Cincinnati, Cincinnati, OH.

    Papers in Europe PMC
  10. 10
    Kate A5 papers · 2026

    Shantilal Shanghvi Cornea Institute, L V Prasad Eye Institute (A.K.), Vijayawada, Andhra Pradesh, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

25

interventional trials for this specific condition

25 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 27 July 2026

25 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.1th percentile).

high confidence · 95.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

13 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.

"Limbal stem cell deficiency"

Run this search on Europe PMC

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

"Limbal stem cell deficiency"

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: 25 interventional · 13 observational · 2 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 2026-07-27T08:40:57.635Z