ORPHA:293621
X-linked endothelial corneal dystrophy
Also known as: XECD
Clinical definition (Orphanet)
X-linked endothelial corneal (XECD) is a rare subtype of posterior corneal characterized by ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
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.
Is anyone studying this?
28
28 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=183) is 38.
28 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
16 in the last 10 years · medium confidence · 37.2th percentile (publications denominator)
Is a treatment being tested?
10
trials for this specific condition
10 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 33 trials are registered for corneal dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
33
trials for corneal dystrophy, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
10 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 86.9th percentile).
medium confidence · 86.9th percentile (trials denominator)
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.
Who's working on it?
170
Distinct author names in 28 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.
- 01Aldave AJ4 papers · 2016
The Jules Stein Eye Institute, David Geffen School of Medicine at the University of California-Los Angeles, Los Angeles, California, United States.
Papers in Europe PMC - 02Lisch W4 papers · 2026
Department of Ophthalmology, Johannes Gutenberg University Mainz, Mainz, Germany.
Papers in Europe PMC - 03Seitz B4 papers · 2026
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Papers in Europe PMC - 04Berger T3 papers · 2026
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Papers in Europe PMC - 05Frausto RF3 papers · 2016
The Jules Stein Eye Institute, David Geffen School of Medicine at the University of California-Los Angeles, Los Angeles, California, United States.
Papers in Europe PMC - 06Nischal KK3 papers · 2024
Children's Eye Center, Children's Hospital of Pittsburgh of UPMC (Dr Nischal), the Eye and Ear Institute, UPMC (Dr Nischal, Ms Lathrop), the Department of Ophthalmology, University of Pittsburgh School of Medicine (Dr Nischal, Ms Lathrop), and the Department of Bioengineering, University of Pittsburgh Swanson School of Engineering (Ms Lathrop).
Papers in Europe PMC - 07Bredrup C2 papers · 2024
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Papers in Europe PMC - 08Busin M2 papers · 2024
Department of Translational Medicine, University of Ferrara, Ferrara, Italy.
Papers in Europe PMC - 09Dudakova L2 papers · 2025
Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Papers in Europe PMC - 10Flockerzi E2 papers · 2026
Department of Ophthalmology, Saarland University Medical Center, Homburg, Saarland, Germany; and.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
10 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
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 below but are not added to the query string.
"X-linked endothelial corneal dystrophy" OR "corneal dystrophy, endothelial, X-linked, X-linked dominant"
MeSH descriptor terms unioned into the query: Corneal Dystrophy, Endothelial, X-Linked
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked endothelial corneal dystrophy" OR "corneal dystrophy, endothelial, X-linked, X-linked dominant" OR "Corneal Dystrophy, Endothelial, X-Linked" OR "corneal endothelial dystrophy" OR "posterior corneal dystrophy"
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: 10 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C567587 OMIM:300779 UMLS:C2749049
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XECD
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