ORPHA:98956
Epithelial basement membrane dystrophy
Also known as: Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy · EBMD · Map-dot-fingerprint dystrophy
Publications
450
83.6th percentile
Trials
4
Interventional, condition-specific
Researchers
886
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007375
- MeSH:C535477
- OMIM:121820
- UMLS:C0521723
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
450 matched papers (276 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
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=5449) is 41.
450 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).
276 in the last 10 years · medium confidence · 83.6th percentile (publications denominator)
Phrase hits: 448 · MeSH hits: 2
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.
- 01Moshirfar M7 papers · 2026
John A. Moran Eye Center, University of Utah, Salt Lake City, UT, USA.
Papers in Europe PMC - 02Borderie 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 - 03Luft N6 papers · 2026
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Papers in Europe PMC - 04Bouheraoua 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 - 05Kassumeh S5 papers · 2026
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Papers in Europe PMC - 06Mayer WJ5 papers · 2024
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Papers in Europe PMC - 07Priglinger SG5 papers · 2025
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Papers in Europe PMC - 08Seitz B5 papers · 2026
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Papers in Europe PMC - 09Dirisamer M4 papers · 2025
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Papers in Europe PMC - 10Georgeon 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 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th 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.
- NCT06914817·NOT YET RECRUITING·Brillouin Microscopy Used to Evaluate Corneal Mechanical Properties
Conditions: Map Dot Fingerprint Dystrophy · Post-penetrating Keratoplasty · Post-Descemet Membrane Endothelial Keratoplasty · Healthy Corneas·Matched via name phrase
- NCT06618508·NOT YET RECRUITING·Manual Debridement vs Phototherapeutic Keratectomy in the Treatment of Corneal Basement Membrane Dystrophy
Conditions: Epithelial Basement Membrane Dystrophy·Matched via name phrase
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.
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 2026-07-26This 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"
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