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ORPHA:293462

Pre-Descemet corneal dystrophy

medium confidenceDisorder

Also known as: PDCD

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

Publications

31

40.6th percentile

Trials

0

Interventional, condition-specific

Researchers

171

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Pre-Descemet corneal (PDCD) is a rare form of stromal corneal characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect 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.

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

    31 matched papers (25 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; 36 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)

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?

31

31 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.

31 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).

25 in the last 10 years · medium confidence · 40.6th percentile (publications denominator)

Phrase hits: 31 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

171

Distinct author names in 31 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 AJ6 papers · 2023

    Stein Eye Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA. Electronic address: aldave@jsei.ucla.edu.

    Papers in Europe PMC
  2. 02
    Chung DD3 papers · 2023

    Stein Eye Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  3. 03
    Lisch W3 papers · 2024

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany (Dr W. Lisch, Dr Wasielica-Poslednik); the Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland (Dr Kivelä); the Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany (Dr Schlötzer-Schrehardt); the Department of Ophthalmology, Eberhard-Karls University of Tübingen, Tübingen, Germany (Dr Rohrbach); the Department of Ophthalmology, University of Marburg, Marburg, Germany (Dr Sekundo); the Department of Ophthalmology, Campus Virchow-Klinikum, Charité Universitaetsmedizin Berlin, Berlin, Germany (Dr Pleyer); the private practice of ophthalmology Hanau, Hanau, Germany (Dr C. Lisch); the Department of Internal Medicine III, Johannes Gutenberg University Mainz, Mainz, Germany (Dr Desuki); the Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany (Dr Rossmann); and the Department of Ophthalmology, Louisiana State University Health Sciences Center, School of Medicine, New Orleans, Louisiana (Dr Weiss).

    Papers in Europe PMC
  4. 04
    Weiss JS3 papers · 2024

    Department of Ophthalmology, Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA. jweiss@med.wayne.edu

    Papers in Europe PMC
  5. 05
    Borderie V2 papers · 2024

    Federation of ocular infectious diseases, French national ophtalmology hospital, 28, rue de Charenton, 75571 Paris, France. Electronic address: vincent.borderie@upmc.fr.

    Papers in Europe PMC
  6. 06
    Boto de Los Bueis A2 papers · 2022

    Department of Ophthalmology, La Paz University Hospital, idiPaz, Sor Ángela de la Cruz road, number 9, 7A door, 28020, Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Bredrup C2 papers · 2024

    Department of Clinical Medicine, University of Bergen, Bergen, Norway.

    Papers in Europe PMC
  8. 08
    Busin M2 papers · 2024

    Department of Translational Medicine, University of Ferrara, Ferrara, Italy.

    Papers in Europe PMC
  9. 09
    Frausto RF2 papers · 2020

    Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA; and.

    Papers in Europe PMC
  10. 10
    Georgeon C2 papers · 2020

    Federation of ocular infectious diseases, French national ophtalmology hospital, 28, rue de Charenton, 75571 Paris, France.

    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). 36 trials are registered for corneal dystrophy, 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.

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

Broader category: corneal dystrophy

36

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

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.

"Pre-Descemet corneal dystrophy"

Run this search on Europe PMC

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

"Pre-Descemet corneal dystrophy" OR "stromal corneal dystrophy"

Recall-expansion terms: stromal corneal dystrophy

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, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PDCD

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 2026-07-27T12:21:23.348Z