ORPHA:98967
Schnyder corneal dystrophy
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 3 strategies returned hits (phrase).
Publications
187
68.3th percentile
Trials
0
Interventional, condition-specific
Researchers
949
Distinct authors in sample
Gene link
UBIAD1
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007374
- MeSH:C535475
- OMIM:121800
- UMLS:C0271287
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — UBIAD1
- LiteraturePresent
187 matched papers (111 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 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?
Yes — we know a specific gene responsible (UBIAD1).
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?
187
187 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.
187 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).
111 in the last 10 years · medium confidence · 68.3th percentile (publications denominator)
Phrase hits: 187 · MeSH hits: 0
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.
- 01Weiss JS19 papers · 2024
Kresge Eye Institute, Wayne State University School of Medicine, Detroit, Michigan 48302, USA. jweiss@med.wayne.edu
Papers in Europe PMC - 02DeBose-Boyd RA10 papers · 2025
Department of Molecular Genetics, University of Texas Southwestern Medical, Dallas, United States.
Papers in Europe PMC - 03Aldave 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 - 04Jo Y8 papers · 2025
Department of Molecular Genetics, University of Texas Southwestern Medical, Dallas, United States.
Papers in Europe PMC - 05
- 06Mohan RR7 papers · 2023
Harry S. Truman Memorial Veterans' Hospital, 800 Hospital Drive, Columbia, MO 65201, USA. mohanr@health.missouri.edu
Papers in Europe PMC - 07Kruth HS6 papers · 2019
Laboratory of Experimental Atherosclerosis, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Papers in Europe PMC - 08Schumacher MM6 papers · 2025
Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Papers in Europe PMC - 09Jun DJ5 papers · 2025
Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, Dallas, United States.
Papers in Europe PMC - 10Nickerson 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). 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
- NCT04440280·RECRUITING·Targeting Reactive Oxygen Species Production as a Novel Therapeutic in Fuch's Endothelial Corneal Dystrophy
Conditions: Fuchs Endothelial Corneal Dystrophy·Matched via name phrase
- NCT06425666·RECRUITING·Trial Comparing Cataract Surgery With Triple-DMEK in Patients With Cataract and Fuchs Endothelial Corneal Dystrophy
Conditions: Cataract Surgery · Cataract and Fuchs Endothelial Corneal Dystrophy·Matched via name phrase
- NCT07539012·RECRUITING·Effect of Descemet Membrane Polishing in Fuchs Endothelial Corneal Dystrophy
Conditions: Fuchs Endothelial Corneal Dystrophy·Matched via name phrase
- NCT07217249·ENROLLING BY INVITATION·Effect of Donor Diabetes and Other Factors on Corneal Transplant Endothelial Cell Loss and Success at 5 Years
Conditions: Fuchs Endothelial Corneal Dystrophy · Corneal Endothelial Decompensation·Matched via name phrase
- NCT07024693·RECRUITING·DT-168 in Keratoplasty Patients With Fuchs Endothelial Corneal Dystrophy
Conditions: Fuchs Endothelial Corneal Dystrophy · Fuchs·Matched via name phrase
- NCT04129021·RECRUITING·High Resolution, High-speed Multimodal Ophthalmic Imaging
Conditions: Retinitis Pigmentosa · Maculopathy, Age Related · Macular Dystrophy · Macular Edema·Matched via name phrase
- NCT07441616·NOT YET RECRUITING·Partial Range Of Field IOLs in DMEK-Enabled Procedures
Conditions: Cataract · Fuchs Endothelial Corneal Dystrophy·Matched via name phrase
- NCT07373821·RECRUITING·Influence of Supine Positioning on the Outcomes After Descemet Membrane Endothelial Keratoplasty (DMEK)
Conditions: Fuchs Endothelial Corneal Dystrophy · Descemet Membrane Endothelial Keratoplasty (DMEK)·Matched via name phrase
- NCT06844123·RECRUITING·Microsurgical Robot-assisted Corneal Transplant
Conditions: Corneal Dystrophy·Matched via name phrase
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.
"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"
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" OR "UBIAD1" OR "stromal corneal dystrophy"
Recall-expansion terms: UBIAD1, 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, mesh, recall-expansion; 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
Ingested 2026-07-27T05:48:42.918Z