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ORPHA:98956

Epithelial basement membrane dystrophy

medium confidenceDisorder

Also known as: Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy · EBMD · Map-dot-fingerprint dystrophy

Publications

450

73.7th percentile

Trials

4

Interventional, condition-specific

Researchers

886

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare corneal characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an manner.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Cogan corneal dystrophy · anterior basement membrane dystrophy

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.”

3/6 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

    450 matched papers (276 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Map-dot-fingerprint corneal dystrophy; Reduced visual acuity; Recurrent corneal erosions) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (2 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)

4

Associated phenotypes · MONDO:0007375

  • Map-dot-fingerprint corneal dystrophy
  • Reduced visual acuity
  • Recurrent corneal erosions
  • Corneal dystrophy

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

450

450 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=3967) is 59.

450 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).

276 in the last 10 years · medium confidence · 73.7th percentile (publications denominator)

Phrase hits: 448 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

886

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
    Moshirfar M7 papers · 2026

    John A. Moran Eye Center, University of Utah, Salt Lake City, UT, USA.

    Papers in Europe PMC
  2. 02
    Borderie V6 papers · 2024

    Centre de compétence du kératocône, centre hospitalier national d'ophtalmologie des XV-XX, 28, rue de Charenton, 75571 Paris cedex 12, France. Electronic address: vincent.borderie@upmc.fr.

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

    Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.

    Papers in Europe PMC
  4. 04
    Bouheraoua N5 papers · 2024

    Centre de compétence du kératocône, centre hospitalier national d'ophtalmologie des XV-XX, 28, rue de Charenton, 75571 Paris cedex 12, France.

    Papers in Europe PMC
  5. 05
    Kassumeh S5 papers · 2026

    Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.

    Papers in Europe PMC
  6. 06
    Mayer WJ5 papers · 2024

    Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.

    Papers in Europe PMC
  7. 07
    Priglinger SG5 papers · 2025

    Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.

    Papers in Europe PMC
  8. 08
    Seitz B5 papers · 2026

    Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.

    Papers in Europe PMC
  9. 09
    Dirisamer M4 papers · 2025

    Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.

    Papers in Europe PMC
  10. 10
    Georgeon C4 papers · 2022

    Centre de compétence du kératocône, centre hospitalier national d'ophtalmologie des XV-XX, 28, rue de Charenton, 75571 Paris cedex 12, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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

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 2026-07-30

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 Epithelial basement membrane dystrophy — 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.

"Epithelial basement membrane dystrophy" OR "Anterior basement membrane dystrophy" OR "Cogan microcystic epithelial dystrophy" OR "Map-dot-fingerprint dystrophy" OR "Cogan corneal dystrophy"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal dystrophy, epithelial basement membrane

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

"Epithelial basement membrane dystrophy" OR "Anterior basement membrane dystrophy" OR "Cogan microcystic epithelial dystrophy" OR "Map-dot-fingerprint dystrophy" OR "Cogan corneal dystrophy" OR "Corneal dystrophy, epithelial basement membrane"

Interventional trials matched via: phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EBMD

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 2026-07-27T05:47:02.926Z