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ORPHA:64734

Iridocorneal endothelial syndrome

low confidenceDisorder

Also known as: ICE syndrome

Publications

1,004

Trials

2

Interventional, condition-specific

Researchers

936

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Iridocorneal endothelial (ICE) syndrome describes a group of corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications

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.

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,004 matched papers (595 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Progressive visual loss; Reduced visual acuity; Ectopia pupillae) 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

    2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0018988

  • Progressive visual loss
  • Reduced visual acuity
  • Ectopia pupillae
  • Anterior synechiae of the anterior chamber
  • Abnormal migration of corneal endothelium

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?

1,004

1,004 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.

1,004 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).

595 in the last 10 years · low confidence

Phrase hits: 1,004 · MeSH hits: 18

Open Europe PMC search

Who's working on it?

936

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
    Chaurasia S6 papers · 2025

    The Cornea Institute.

    Papers in Europe PMC
  2. 02
    Zhang X6 papers · 2026

    National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Chen H5 papers · 2026

    Department of Ophthalmology, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  4. 04
    Chen W5 papers · 2025

    From National Clinical Research Center for Ocular Diseases, The Eye Hospital of Wenzhou Medical University, Glaucoma Research Institute of Wenzhou Medical University, Zhejiang, China (Y.D, S.Z, W.Y, J.G, H.L, H.C, Y.X, R.L, Y.T, W.C, Y.L);; Qingdao Municipal Hospital, Qingdao, Shandong, China (Y.D);; Wuhu First People's Hospital, Wuhu, Anhui, China (H.C);; Biomedical Informatics and Statistics Center, School of Public Health, Fudan University, Shanghai, China (W.Z);; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China (C.C.T);; Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China (M.H);; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia (M.H);; Beijing Tongren Hospital, Beijing, China (N.W).

    Papers in Europe PMC
  5. 05
    Chen Y5 papers · 2026

    Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Road, Shanghai, 200031, China. yuhongchen@fudan.edu.cn.

    Papers in Europe PMC
  6. 06
    Liu Y5 papers · 2026

    Zhongshan Ophthalmic Center, State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Sun Yat-Sen University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  7. 07
    Wang Y5 papers · 2026

    Department of Ophthalmology, Peking University Third Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Chen J4 papers · 2026

    Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Road, Shanghai, 200031, China.

    Papers in Europe PMC
  9. 09
    Dubey S4 papers · 2026

    Department of Glaucoma, Dr. Shroff's Charity Eye Hospital, New Delhi, India.

    Papers in Europe PMC
  10. 10
    Hong J4 papers · 2026

    Department of Ophthalmology, Peking University Third Hospital, Beijing 100191, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 23 · after dedupe 23 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 23 · 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 (23)

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 Iridocorneal endothelial syndrome — 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.

"Iridocorneal endothelial syndrome" OR "ICE syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Iridocorneal Endothelial Syndrome

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

"Iridocorneal endothelial syndrome" OR "ICE syndrome"

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: 2 interventional · 1 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1004) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:09:56.871Z