RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:139455

Autosomal recessive bestrophinopathy

medium confidenceDisorder

Also known as: Retinopathy, Burgess-Black type

Publications

416

85.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,082

Distinct authors in sample

Gene link

BEST1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare retinal , characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).

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 (1)

retinopathy, Burgess-Black type

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

    416 matched papers (304 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?

416

416 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.

416 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).

304 in the last 10 years · medium confidence · 85.1th percentile (publications denominator)

Phrase hits: 413 · MeSH hits: 5

Open Europe PMC search

Who's working on it?

1,082

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
    Michaelides M7 papers · 2024

    National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.

    Papers in Europe PMC
  2. 02
    Webster AR7 papers · 2024

    Moorfields Eye Hospital NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  3. 03
    Antropoli A5 papers · 2026

    Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

    Papers in Europe PMC
  4. 04
    Bandello F5 papers · 2026

    Department of Ophthalmology, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Bianco L5 papers · 2026

    Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

    Papers in Europe PMC
  6. 06
    Kellner U5 papers · 2026

    Zentrum für seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany.

    Papers in Europe PMC
  7. 07
    Li Y5 papers · 2023

    Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

    Papers in Europe PMC
  8. 08
    Tsang SH5 papers · 2025

    Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, Columbia University, New York, New York, USA.

    Papers in Europe PMC
  9. 09
    Wang Y5 papers · 2026

    Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.

    Papers in Europe PMC
  10. 10
    Weber BHF5 papers · 2026

    Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.

    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).

medium 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

2 observational studies match 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 recessive bestrophinopathy" OR "Retinopathy, Burgess-Black type"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Bestrophinopathy

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

"Autosomal recessive bestrophinopathy" OR "Retinopathy, Burgess-Black type" OR "Bestrophinopathy" OR "BEST1"

Recall-expansion terms: BEST1

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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, 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 (416) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:36:55.888Z