RARE DISEASERESEARCH ATLAS

ORPHA:263479

Fuchs heterochromic iridocyclitis

medium confidenceDisorder

Also known as: FHI

Publications

608

70th percentile

Trials

0

Interventional, condition-specific

Researchers

947

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown occurring in a very small percentage (0.5-6.2%) of uveitis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Fuchs heterochromic cyclitis · Fuchs heterochromic uveitis · Fuchs' heterochromic cyclitis · Fuchs' heterochromic uveitis

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    608 matched papers (224 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Anterior chamber inflammatory cells; Vitreous floaters; Cataract) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

24

Associated phenotypes · MONDO:0016989

  • Anterior chamber inflammatory cells
  • Vitreous floaters
  • Cataract
  • Blurred vision
  • Heterochromia iridis

Showing 5 of 24 — 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?

608

608 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.

608 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).

224 in the last 10 years · medium confidence · 70th percentile (publications denominator)

Phrase hits: 608 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

947

Distinct author names in 200 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.

  1. 01
    Rothova A9 papers · 2023

    Department of Ophthalmology, Erasmus Medical Center, Erasmus University, Rotterdam, the Netherlands.

    Papers in Europe PMC
  2. 02
    de-la-Torre A5 papers · 2025

    NeURos research group, Escuela de Medicina y Ciencias de la salud, Universidad del Rosario, Carrera 24 # 63 C 69, Bogotá, Colombia. alejadelatorre@yahoo.com.

    Papers in Europe PMC
  3. 03
    Kianersi F5 papers · 2025

    Isfahan Eye Research Center, Department of Ophthalmology, Isfahan University of Medical Sciences, Isfahan, Iran.

    Papers in Europe PMC
  4. 04
    Kianersi H5 papers · 2024

    Isfahan, Iran

    Papers in Europe PMC
  5. 05
    Bhargava R4 papers · 2024

    From the Departments of *Ophthalmology and †Pathology, School of Medical Sciences and Research, Sharda University, Greater Noida; and ‡Department of Ophthalmology, Rotary Eye Hospital, Maranda, Palampur, India.

    Papers in Europe PMC
  6. 06
    Bodaghi B4 papers · 2024

    Department of Ophthalmology, Hôpital de la Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  7. 07
    Hassanpour K4 papers · 2024

    Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Tehran, 19839-63113, Iran.

    Papers in Europe PMC
  8. 08
    Pourazizi M4 papers · 2025

    Isfahan Eye Research Center, Department of Ophthalmology, Isfahan University of Medical Sciences, Isfahan, Iran.

    Papers in Europe PMC
  9. 09
    Acharya NR3 papers · 2026

    Francis I. Proctor Foundation, University of California San Francisco, San Francisco, CA, USA; Department of Ophthalmology, University of California, San Francisco, CA, USA.

    Papers in Europe PMC
  10. 10
    Baarsma GS3 papers · 1993

    Eye Hospital, Rotterdam, The Netherlands.

    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).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Fuchs heterochromic iridocyclitis — 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 heterochromic iridocyclitis" OR "Fuchs heterochromic cyclitis" OR "Fuchs heterochromic uveitis" OR "Fuchs' heterochromic cyclitis" OR "Fuchs' heterochromic uveitis"

Run this search on Europe PMC

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

"Fuchs heterochromic iridocyclitis" OR "Fuchs heterochromic cyclitis" OR "Fuchs heterochromic uveitis" OR "Fuchs' heterochromic cyclitis" OR "Fuchs' heterochromic uveitis"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FHI

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

Ingested 2026-07-27T11:22:17.614Z