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ORPHA:101068

Congenital stromal corneal dystrophy

medium confidenceDisorder

Also known as: CSCD · Congenital hereditary stromal dystrophy · Witschel dystrophy

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

Publications

115

52.3th percentile

Trials

1

Interventional, condition-specific

Researchers

520

Distinct authors in sample

Gene link

DCN

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

stromal corneal (CSCD) is an extremely rare form of stromal corneal characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.

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)

congenital hereditary stromal dystrophy · congenital stromal corneal 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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — DCN

  2. LiteraturePresent

    115 matched papers (70 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Corneal dystrophy; Band-shaped 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 trialPresent

    1 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (DCN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

8

Associated phenotypes · MONDO:0012401

  • Corneal dystrophy
  • Band-shaped corneal dystrophy
  • Photophobia
  • Increased corneal thickness
  • Glaucoma

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?

115

115 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.

115 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).

70 in the last 10 years · medium confidence · 52.3th percentile (publications denominator)

Phrase hits: 104 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

520

Distinct author names in 104 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
    Iozzo RV9 papers · 2022

    From King's British Heart Foundation Centre, King's College London, United Kingdom (J.B.-B., A. Zoccarato, R.K.-T., M.F., X.Y., A. Zampetaki, M.C., P.W., A.M.S., K.O., M.M.); Institute for Molecular and Translational Therapeutic Strategies, MH-Hannover, Germany (S.K.G., T.T.); St George's Hospital, NHS Trust, London, United Kingdom (M.F., A.V., A.K., M.J.); University Medical Center Hamburg-Eppendorf, Germany (T.W., M.N.H.); Protein Metrics, San Carlos, CA (M.B.); Biobanco A Coruña, INIBIC-Complexo Hospitalario Universitario de A Coruña, Spain (N.D.); Institut für Allgemeine Pharmakologie und Toxikologie, Klinikum der Goethe-Universität Frankfurt, Frankfurt am Main, Germany (L.S.); Institute for Pharmacology and Clinical Pharmacology, Heinrich-Heine-University, Düsseldorf, Germany (J.W.F.); Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA (R.V.I.); Thermo Fisher Scientific, San Jose, CA (R.V.); Experimental Cardiology, Department of Cardiology and Angiology, MH-Hannover, Germany (J.H.); and Laboratoire Vecteurs: Synthèse et Applications Thérapeutiques, UMR 7199 CNRS Université de Strasbourg, Illkirch, France (A.K.).

    Papers in Europe PMC
  2. 02
    Birk DE8 papers · 2020

    Department of Molecular Pharmacology and Physiology, USA. Electronic address: dbirk@usf.edu.

    Papers in Europe PMC
  3. 03
    Bredrup C8 papers · 2024

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

    Papers in Europe PMC
  4. 04
    Chen S6 papers · 2015

    Department of Pathology & Cell Biology, University of South Florida College of Medicine, Tampa, FL 33612, USA.

    Papers in Europe PMC
  5. 05
    Aldave AJ5 papers · 2023

    Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America.

    Papers in Europe PMC
  6. 06
    Knappskog PM5 papers · 2024

    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway 6Department of Clinical Science, University of Bergen, Bergen, Norway.

    Papers in Europe PMC
  7. 07
    Rødahl E5 papers · 2016

    Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway. eyvind.rodahl@helse-bergen.no

    Papers in Europe PMC
  8. 08
    Chakravarti S4 papers · 2023

    Departments of Medicine, Ophthalmology and Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  9. 09
    Lisch W4 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
  10. 10
    Mohan RR4 papers · 2023

    Harry S. Truman Memorial Veterans' Hospital, 800 Hospital Drive, Columbia, MO 65201, USA. mohanr@health.missouri.edu

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: stromal corneal dystrophy

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Congenital stromal 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.

("Congenital stromal corneal dystrophy" OR "Congenital hereditary stromal dystrophy" OR "Witschel dystrophy") OR (MESH:"Corneal Dystrophy, Congenital Stromal") OR ("DCN syndrome" OR "DCN-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal Dystrophy, Congenital Stromal

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

"Congenital stromal corneal dystrophy" OR "Congenital hereditary stromal dystrophy" OR "Witschel dystrophy" OR "Corneal Dystrophy, Congenital Stromal"

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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"stromal corneal dystrophy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CSCD

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 2026-07-27T07:15:21.930Z