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ORPHA:98954

Meesmann corneal dystrophy

medium confidenceDisorder

Also known as: Juvenile hereditary epithelial dystrophy of Meesmann · MECD

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

67

43.6th percentile

Trials

0

Interventional, condition-specific

Researchers

343

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Meesmann corneal (MECD) is a rare form of superficial corneal characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

juvenile epithelial of Meesmann corneal dystrophy · juvenile hereditary epithelial dystrophy of Meesmann

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.”

4/6 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

    67 matched papers (36 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Epiphora; Corneal dystrophy; Photophobia) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 38 for broader category corneal dystrophy

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)

8

Associated phenotypes · MONDO:0007379

  • Epiphora
  • Corneal dystrophy
  • Photophobia
  • Reduced visual acuity
  • Punctate opacification of the cornea

Showing 5 of 8 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

67

67 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.

67 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).

36 in the last 10 years · medium confidence · 43.6th percentile (publications denominator)

Phrase hits: 67 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

343

Distinct author names in 67 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
    Aldave AJ5 papers · 2020

    a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.

    Papers in Europe PMC
  2. 02
    Lisch W4 papers · 2024

    Department of Ophthalmology, City Hospital of Hanau (Drs Lisch and Lisch), Hanau, Germany. Lisch.Hanau@t-online.de

    Papers in Europe PMC
  3. 03
    Seitz B4 papers · 2026

    Department of Ophthalmology, Saarland University Medical Center, 66424 Homburg/Saar, Germany.

    Papers in Europe PMC
  4. 04
    Cruzat A3 papers · 2023

    Cornea & Refractive Surgery Service, Department of Ophthalmology, Massachusetts Eye & Ear Infirmary, Harvard Medical School, Boston, MA, USA; Department of Ophthalmology, Pontificia Universidad Católica de Chile, Santiago, Chile.

    Papers in Europe PMC
  5. 05
    Frausto RF3 papers · 2016

    a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.

    Papers in Europe PMC
  6. 06
    Hamrah P3 papers · 2023

    Cornea & Refractive Surgery Service, Department of Ophthalmology, Massachusetts Eye & Ear Infirmary, Harvard Medical School, Boston, MA, USA; Boston Image Reading Center, Tufts Medical Center, Tufts University School of Medicine, Boston, MA; Cornea Service, New England Eye Center, Department of Ophthalmology, Tufts Medical Center, Tufts University School of Medicine, Boston, MA. Electronic address: Pedram.hamrah@tufts.edu.

    Papers in Europe PMC
  7. 07
    Klintworth GK3 papers · 2011

    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA. klint001@mc.duke.edu

    Papers in Europe PMC
  8. 08
    Munier FL3 papers · 2024

    Retinoblastoma and Oculogenetic Units, Jules-Gonin Eye Hospital and Fondation Asile des Aveugle, University of Lausanne, Lausanne, Switzerland; and.

    Papers in Europe PMC
  9. 09
    Rapuano CJ3 papers · 2024

    Cornea Service, Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA.

    Papers in Europe PMC
  10. 10
    Barraquer RI2 papers · 2026

    Centro de Oftalmología Barraquer, 08021 Barcelona, Spain.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 38 trials are registered for corneal dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

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

Broader category: corneal dystrophy

38

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

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 Meesmann corneal 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.

"Meesmann corneal dystrophy" OR "Juvenile hereditary epithelial dystrophy of Meesmann" OR "Juvenile hereditary epithelial dystrophy of the Meesmann" OR "juvenile epithelial of Meesmann corneal dystrophy" OR "juvenile epithelial of the Meesmann corneal dystrophy"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal Dystrophy, Juvenile Epithelial of Meesmann

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

"Meesmann corneal dystrophy" OR "Juvenile hereditary epithelial dystrophy of Meesmann" OR "Juvenile hereditary epithelial dystrophy of the Meesmann" OR "juvenile epithelial of Meesmann corneal dystrophy" OR "juvenile epithelial of the Meesmann corneal dystrophy" OR "Corneal Dystrophy, Juvenile Epithelial of Meesmann"

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

Parent-category trials query:

"corneal dystrophy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MECD

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 2026-07-27T05:46:42.258Z