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ORPHA:3086

Autosomal dominant vitreoretinochoroidopathy

high confidenceDisorder

Also known as: ADVIRC

Publications

181

68th percentile

Trials

1

Interventional, condition-specific

Researchers

919

Distinct authors in sample

Gene link

BEST1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.

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.

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 identifiedPresent

    Definitive — BEST1

  2. LiteraturePresent

    181 matched papers (109 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (BEST1).

GenCC classification: Definitive.

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?

181

181 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.

181 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).

109 in the last 10 years · high confidence · 68th percentile (publications denominator)

Phrase hits: 181 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

919

Distinct author names in 181 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
    Marmorstein AD13 papers · 2019

    Department of Ophthalmology and Vision Science, University of Arizona, 655 N. Alvernon Way, Suite# 108, Tucson, AZ 85711, USA. amarmorstein@eyes.arizona.edu

    Papers in Europe PMC
  2. 02
    Zhang Y10 papers · 2026

    Department of Pharmacology and Physiology, School of Medicine and Dentistry, University of Rochester, Rochester, United States.

    Papers in Europe PMC
  3. 03
    Black GC8 papers · 2020

    Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

    Papers in Europe PMC
  4. 04
    Manson FD8 papers · 2016

    Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK lisa.swanton@manchester.ac.uk forbes.manson@manchester.ac.uk.

    Papers in Europe PMC
  5. 05
    Marmorstein LY8 papers · 2018

    Department of Ophthalmology and Vision Science, University of Arizona, Tucson 85711, USA.

    Papers in Europe PMC
  6. 06
    Webster AR8 papers · 2024

    Moorfields Eye Hospital NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  7. 07
    Yang T8 papers · 2026

    Department of Pharmacology and Physiology, School of Medicine and Dentistry, University of Rochester, Rochester, United States.

    Papers in Europe PMC
  8. 08
    Kellner U7 papers · 2024

    Augenklinik Charité, Campus Benjamin Franklin, Berlin. kellneru@retinascience.de

    Papers in Europe PMC
  9. 09
    Davidson AE6 papers · 2012

    Genetic Medicine, The University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

    Papers in Europe PMC
  10. 10
    Goldberg MF6 papers · 2018

    Department of Ophthalmology, University of Illinois, Chicago College of Medicine.

    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; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th 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.

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.

"Autosomal dominant vitreoretinochoroidopathy" OR "ADVIRC"

Run this search on Europe PMC

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

"Autosomal dominant vitreoretinochoroidopathy" OR "ADVIRC" OR "BEST1"

Recall-expansion terms: BEST1

Interventional trials matched via: recall-expansion (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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-26T22:11:27.209Z