ORPHA:101068
Congenital stromal corneal dystrophy
Also known as: CSCD · Congenital hereditary stromal dystrophy · Witschel dystrophy
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
104
57.8th percentile
Trials
1
Interventional, condition-specific
Researchers
520
Distinct authors in sample
Gene link
DCN
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012401
- MeSH:C566452
- OMIM:610048
- UMLS:C1864738
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — DCN
- LiteraturePresent
104 matched papers (62 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
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)
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?
104
104 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.
104 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).
62 in the last 10 years · medium confidence · 57.8th percentile (publications denominator)
Phrase hits: 104 · MeSH hits: 0
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.
- 01Iozzo 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 - 02Birk DE8 papers · 2020
Department of Molecular Pharmacology and Physiology, USA. Electronic address: dbirk@usf.edu.
Papers in Europe PMC - 03Bredrup C8 papers · 2024
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Papers in Europe PMC - 04Chen S6 papers · 2015
Department of Pathology & Cell Biology, University of South Florida College of Medicine, Tampa, FL 33612, USA.
Papers in Europe PMC - 05Aldave AJ5 papers · 2023
Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America.
Papers in Europe PMC - 06Knappskog 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 - 07Rødahl E5 papers · 2016
Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway. eyvind.rodahl@helse-bergen.no
Papers in Europe PMC - 08Chakravarti S4 papers · 2023
Departments of Medicine, Ophthalmology and Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Papers in Europe PMC - 09Lisch 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 - 10Mohan 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th 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.
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.
"Congenital stromal corneal dystrophy" OR "Congenital hereditary stromal dystrophy" OR "Witschel dystrophy"
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" OR "DCN"
Recall-expansion terms: DCN
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, recall-expansion; 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