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ORPHA:98974

Fuchs endothelial corneal dystrophy

low confidenceDisorder

Also known as: Endoepithelial corneal dystrophy · FECD · Late hereditary endothelial dystrophy

Publications

4,874

Trials

54

Interventional, condition-specific

Researchers

1,055

Distinct authors in sample

Gene link

LOXHD1, SLC9D1

Limited

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A disorder that is the most frequent form of posterior corneal and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

Fuchs endothelial dystrophy · corneal dystrophy, Fuchs endothelial · late hereditary endothelial 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

    Limited — LOXHD1, SLC9D1

  2. LiteraturePresent

    4,874 matched papers (3,177 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Edema; Reduced visual acuity; Corneal opacity) Source

  4. Animal modelPresent

    3 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 trialPresent

    54 matched on ClinicalTrials.gov (19 recruiting in sample)

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?

Possibly — only limited evidence so far for LOXHD1, SLC9D1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0005321

  • Edema
  • Reduced visual acuity
  • Corneal opacity
  • Abnormal corneal endothelium morphology
  • Abnormal Descemet membrane morphology

Showing 5 of 33 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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

1

Drugs / clinical candidates · MONDO_0005321

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,874

4,874 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.

4,874 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).

3,177 in the last 10 years · low confidence

Phrase hits: 4,447 · MeSH hits: 47

Open Europe PMC search

Who's working on it?

1,055

Distinct author names in 200 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
    Okumura N20 papers · 2026

    Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, Japan.

    Papers in Europe PMC
  2. 02
    Koizumi N17 papers · 2026

    Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, Japan.

    Papers in Europe PMC
  3. 03
    Schlötzer-Schrehardt U11 papers · 2026

    Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany.

    Papers in Europe PMC
  4. 04
    Kruse F10 papers · 2026

    Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany.

    Papers in Europe PMC
  5. 05
    Oie Y10 papers · 2026

    Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.

    Papers in Europe PMC
  6. 06
    Tourtas T10 papers · 2026

    Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany.

    Papers in Europe PMC
  7. 07
    Gain P9 papers · 2026

    Laboratory of Biology, Engineering, and Imaging for Ophthalmology, BiiO, Jean Monnet University, Saint-Etienne, France.

    Papers in Europe PMC
  8. 08
    Hayashi T9 papers · 2026

    Department of Ophthalmology, Department of Visual Sciences, Nihon University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Thuret G9 papers · 2026

    Laboratory of Biology, Engineering, and Imaging for Ophthalmology, BiiO, Jean Monnet University, Saint-Etienne, France gilles.thuret@univ-st-etienne.fr.

    Papers in Europe PMC
  10. 10
    Li X8 papers · 2026

    Medical School of Chinese PLA, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

54

interventional trials for this specific condition

54 interventional trials matched this specific condition name; 19 currently recruiting in our sample. 16 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 28 July 2026

54 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.3th percentile).

low confidence · 97.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: corneal dystrophy

16

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

Observational and natural-history studies

21 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

Open the complete matched search on ClinicalTrials.gov

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 7 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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).

Uncertain / not reviewed (6)

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 Fuchs endothelial 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.

("Fuchs endothelial corneal dystrophy" OR "Endoepithelial corneal dystrophy" OR "Late hereditary endothelial dystrophy" OR "Fuchs endothelial dystrophy" OR "corneal dystrophy, Fuchs endothelial") OR (MESH:"Fuchs' Endothelial Dystrophy") OR ("LOXHD1" OR "LOXHD1 syndrome" OR "LOXHD1-related" OR "SLC9D1" OR "SLC9D1 syndrome" OR "SLC9D1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fuchs' Endothelial Dystrophy

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

"Fuchs endothelial corneal dystrophy" OR "Endoepithelial corneal dystrophy" OR "Late hereditary endothelial dystrophy" OR "Fuchs endothelial dystrophy" OR "corneal dystrophy, Fuchs endothelial" OR "Fuchs' Endothelial Dystrophy"

Interventional trials matched via: both, 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: 54 interventional · 21 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"corneal dystrophy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FECD

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
  • Publication count (4874) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:50:03.592Z