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ORPHA:40923

Eales disease

low confidenceDisorder

Also known as: Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Publications

1,189

Trials

1

Interventional, condition-specific

Researchers

1,027

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.

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 (2)

idiopathic retinal perivasculitis · idiopathic retinal vasculitis

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

    1,189 matched papers (516 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Headache; Vitreous hemorrhage; Epistaxis) 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?

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

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

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0018460

  • Headache
  • Vitreous hemorrhage
  • Epistaxis
  • Constipation
  • Tractional retinal detachment

Showing 5 of 30 — 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)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Ascorbic Acid · marker/mechanism
  • Vitamin A · marker/mechanism
  • Vitamin E · marker/mechanism

MyDisease.info · MONDO:0018460

Literature

Is anyone studying this?

1,189

1,189 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.

1,189 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).

516 in the last 10 years · low confidence

Phrase hits: 1,189 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,027

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
    Biswas J11 papers · 2026

    Department of Uvea, Medical and Vision Research Foundation, Sankara Nethralaya, No. 41 (old 18), College RoadTamil Nadu, Chennai, 600006, India.

    Papers in Europe PMC
  2. 02
    de-la-Torre A4 papers · 2026

    Neuroscience Research Group (NEUROS), Neurovitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.

    Papers in Europe PMC
  3. 03
    Gupta A4 papers · 2023

    Department of Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.

    Papers in Europe PMC
  4. 04
    Gupta V4 papers · 2026

    Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  5. 05
    Khairallah M4 papers · 2022

    Department of Ophthalmology, Fattouma Bourguiba University Hospital, Faculty of Medicine, University of Monastir, Monastir, Tunisia.

    Papers in Europe PMC
  6. 06
    Mejía-Salgado G4 papers · 2026

    Neuroscience Research Group (NEUROS), Neurovitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.

    Papers in Europe PMC
  7. 07
    Nguyen QD4 papers · 2026

    Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California, USA.

    Papers in Europe PMC
  8. 08
    Saatci AO4 papers · 2025

    Department of Ophthalmology, Dokuz Eylul University Faculty of Medicine, Izmir, Turkiye.

    Papers in Europe PMC
  9. 09
    Agarwal A3 papers · 2026

    The Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi P.O. Box 124140, United Arab Emirates.

    Papers in Europe PMC
  10. 10
    Agrawal R3 papers · 2026

    Programme for Ocular Inflammation & Infection Translational Research, Department of Ophthalmology, National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore; National Healthcare Group Eye Institute, Tan Tock Seng Hospital, 308433, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Singapore Eye Research Institute, Singapore; Duke NUS Medical School, Singapore. Electronic address: Rupesh_agrawal@ttsh.com.sg.

    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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Eales disease — 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.

"Eales disease" OR "Idiopathic retinal perivasculitis" OR "Idiopathic retinal vasculitis"

Run this search on Europe PMC

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

"Eales disease" OR "Idiopathic retinal perivasculitis" OR "Idiopathic retinal vasculitis"

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: 1 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1189) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T00:04:00.760Z