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ORPHA:98967

Schnyder corneal dystrophy

low confidenceDisorder

Also known as: Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder · SCCD · SCD · Schnyder crystalline corneal dystrophy · Schnyder crystalline dystrophy sine crystals

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

Publications

567

Trials

0

Interventional, condition-specific

Researchers

949

Distinct authors in sample

Gene link

UBIAD1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Schnyder corneal (SCD) is a rare form of stromal corneal characterized by corneal clouding or crystals within the corneal stroma, and a decrease in visual acuity.

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 (3)

corneal dystrophy, Schnyder type · crystalline stromal dystrophy · hereditary crystalline stromal dystrophy of Schnyder

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — UBIAD1

  2. LiteraturePresent

    567 matched papers (415 in last 10 years) Source

  3. Phenotype characterisedPresent

    2 HPO annotations (e.g. Corneal dystrophy; Crystalline corneal dystrophy) Source

  4. Animal modelPresent

    2 genotype models (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?

Yes — we know a specific gene responsible (UBIAD1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

2

Associated phenotypes · MONDO:0007374

  • Corneal dystrophy
  • Crystalline corneal dystrophy

Animal models (Monarch / Alliance)

2

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?

567

567 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

567 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).

415 in the last 10 years · low confidence

Phrase hits: 187 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

949

Distinct author names in 187 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
    Weiss JS19 papers · 2024

    Kresge Eye Institute, Wayne State University School of Medicine, Detroit, Michigan 48302, USA. jweiss@med.wayne.edu

    Papers in Europe PMC
  2. 02
    DeBose-Boyd RA10 papers · 2025

    Department of Molecular Genetics, University of Texas Southwestern Medical, Dallas, United States.

    Papers in Europe PMC
  3. 03
    Aldave AJ8 papers · 2019

    The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. aldave@jsei.ucla.edu

    Papers in Europe PMC
  4. 04
    Jo Y8 papers · 2025

    Department of Molecular Genetics, University of Texas Southwestern Medical, Dallas, United States.

    Papers in Europe PMC
  5. 05
    Lisch W7 papers · 2024

    prof.dr.lisch@augenklinik-hanau.de

    Papers in Europe PMC
  6. 06
    Mohan RR7 papers · 2023

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

    Papers in Europe PMC
  7. 07
    Kruth HS6 papers · 2019

    Laboratory of Experimental Atherosclerosis, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  8. 08
    Schumacher MM6 papers · 2025

    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX, USA.

    Papers in Europe PMC
  9. 09
    Jun DJ5 papers · 2025

    Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, Dallas, United States.

    Papers in Europe PMC
  10. 10
    Nickerson ML5 papers · 2018

    Cancer and Inflammation Program, National Cancer Institute, National Institutes of Health, Frederick, Maryland, USA. nickersonml@mail.nih.gov

    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.

low 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 Schnyder 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.

("Schnyder corneal dystrophy" OR "Crystalline stromal dystrophy" OR "Hereditary crystalline stromal dystrophy of Schnyder" OR "Hereditary crystalline stromal dystrophy of the Schnyder" OR "Schnyder crystalline corneal dystrophy" OR "Schnyder crystalline dystrophy sine crystals" OR "corneal dystrophy, Schnyder type") OR (MESH:"Corneal Dystrophy, Crystalline, of Schnyder") OR ("UBIAD1" OR "UBIAD1 syndrome" OR "UBIAD1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal Dystrophy, Crystalline, of Schnyder

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

"Schnyder corneal dystrophy" OR "Crystalline stromal dystrophy" OR "Hereditary crystalline stromal dystrophy of Schnyder" OR "Hereditary crystalline stromal dystrophy of the Schnyder" OR "Schnyder crystalline corneal dystrophy" OR "Schnyder crystalline dystrophy sine crystals" OR "corneal dystrophy, Schnyder type" OR "Corneal Dystrophy, Crystalline, of Schnyder"

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: SCCD; SCD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (567) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:48:42.918Z