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ORPHA:293381

Epithelial recurrent erosion dystrophy

low confidenceDisorder

Also known as: Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Recurrent hereditary corneal erosions

Publications

2,019

Trials

1

Interventional, condition-specific

Researchers

270

Distinct authors in sample

Gene link

COL17A1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Epithelial recurrent erosion (ERED) is a rare form of superficial corneal characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.

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 (4)

dystrophia Helsinglandica · dystrophia Smolandiensis · epithelial recurrent erosion dystrophy · recurrent hereditary corneal erosions

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — COL17A1

  2. LiteraturePresent

    2,019 matched papers (1,600 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Corneal erosion; Epiphora; Photophobia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (COL17A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0007381

  • Corneal erosion
  • Epiphora
  • Photophobia
  • Ocular pain
  • Visual impairment

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

2,019

2,019 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.

2,019 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).

1,600 in the last 10 years · low confidence

Phrase hits: 48 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

270

Distinct author names in 48 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
    Lisch W7 papers · 2024

    Augenklinik, Universitätsmedizin der Johannes-Gutenberg-Universität, Mainz.

    Papers in Europe PMC
  2. 02
    Aldave AJ5 papers · 2019

    Ophthalmology, Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

    Papers in Europe PMC
  3. 03
    Hammar B4 papers · 2026

    Department of Ophthalmology, Faculty of Health Sciences, University Hospital, Linköping, Sweden. bjorn.hammar@skane.se

    Papers in Europe PMC
  4. 04
    Seitz B4 papers · 2024

    Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes, Homburg/Saar.

    Papers in Europe PMC
  5. 05
    Weiss JS4 papers · 2024

    Department of Ophthalmology, Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA. jweiss@med.wayne.edu

    Papers in Europe PMC
  6. 06
    Bredrup C3 papers · 2024

    Department of Clinical Medicine, University of Bergen, Bergen, Norway.

    Papers in Europe PMC
  7. 07
    Busin M3 papers · 2024

    Department of Translational Medicine, University of Ferrara, Ferrara, Italy.

    Papers in Europe PMC
  8. 08
    Dellby A3 papers · 2010
    Papers in Europe PMC
  9. 09
    Fagerholm P3 papers · 2010
    Papers in Europe PMC
  10. 10
    Kim EK3 papers · 2024

    Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.

    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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 Epithelial recurrent erosion 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.

("Epithelial recurrent erosion dystrophy" OR "Dystrophia Helsinglandica" OR "Dystrophia Smolandiensis" OR "Recurrent hereditary corneal erosions") OR (MESH:"Epithelial Recurrent Erosion Dystrophy") OR ("COL17A1" OR "COL17A1 syndrome" OR "COL17A1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epithelial Recurrent Erosion Dystrophy

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

"Epithelial recurrent erosion dystrophy" OR "Dystrophia Helsinglandica" OR "Dystrophia Smolandiensis" OR "Recurrent hereditary corneal erosions"

Interventional trials matched via: both (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.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ERED

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 (2019) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T12:21:10.150Z