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ORPHA:353344

Idiopathic macular telangiectasia type 1

medium confidenceDisorder

Also known as: Aneurysmal telangiectasia · Visible and exudative idiopathic juxtafoveolar retinal telangiectasis

Publications

242

79.2th percentile

Trials

0

Interventional, condition-specific

Researchers

918

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

aneurysmal telangiectasia · idiopathic macular telangiectasia type 1 · visible and exudative idiopathic juxtafoveolar retinal telangiectasis

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    242 matched papers (206 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 20 for broader category macular telangiectasia

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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

242

242 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

242 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

206 in the last 10 years · medium confidence · 79.2th percentile (publications denominator)

Phrase hits: 242 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

918

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
    Borrelli E11 papers · 2026

    Department of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Querques G10 papers · 2026

    Department of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, Italy. giuseppe.querques@unisr.it.

    Papers in Europe PMC
  3. 03
    Alessio G8 papers · 2026

    Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro," Bari, Italy.

    Papers in Europe PMC
  4. 04
    Boscia F8 papers · 2026

    Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro," Bari, Italy.

    Papers in Europe PMC
  5. 05
    Boscia G8 papers · 2026

    Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro," Bari, Italy.

    Papers in Europe PMC
  6. 06
    Sacconi R8 papers · 2026

    Department of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Viggiano P8 papers · 2026

    Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro," Bari, Italy.

    Papers in Europe PMC
  8. 08
    Mukai R7 papers · 2026

    Department of Ophthalmology, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma, 371-8511, Japan.

    Papers in Europe PMC
  9. 09
    Akiyama H6 papers · 2024

    Department of Ophthalmology, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma, 371-8511, Japan.

    Papers in Europe PMC
  10. 10
    Bandello F6 papers · 2025

    Department of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, Italy.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 20 trials are registered for macular telangiectasia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th 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.

20 interventional trials matched macular telangiectasia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: macular telangiectasia

20

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

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Idiopathic macular telangiectasia type 1" OR "Aneurysmal telangiectasia" OR "Visible and exudative idiopathic juxtafoveolar retinal telangiectasis"

Run this search on Europe PMC

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

"Idiopathic macular telangiectasia type 1" OR "Aneurysmal telangiectasia" OR "Visible and exudative idiopathic juxtafoveolar retinal telangiectasis" OR "idiopathic disease"

Recall-expansion terms: idiopathic disease

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"macular telangiectasia"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (242) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T14:26:53.238Z