ORPHA:139455
Autosomal recessive bestrophinopathy
Also known as: Retinopathy, Burgess-Black type
Publications
2,693
Trials
1
Interventional, condition-specific
Researchers
1,082
Distinct authors in sample
Gene link
BEST1
Definitive
Readiness
5/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012733
- MeSH:C567518
- OMIM:611809
- UMLS:C3888198
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.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — BEST1
- LiteraturePresent
2,693 matched papers (1,936 in last 10 years) Source
- Phenotype characterisedPresent
5 HPO annotations (e.g. Retinal flecks; Hypermetropia; Retinal pigment epithelial atrophy) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
5
Associated phenotypes · MONDO:0012733
- Retinal flecks
- Hypermetropia
- Retinal pigment epithelial atrophy
- Reduced visual acuity
- Decreased light- and dark-adapted electroretinogram amplitude
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Best1tm1.1Amar/Best1+ [background:] involves: 129X1/SvJ * BALB/c·MGI:4450918·Mus musculus
- Best1tm1.1Amar/Best1tm1.1Amar [background:] involves: 129X1/SvJ * BALB/c·MGI:4443335·Mus musculus
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?
2,693
2,693 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.
2,693 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).
1,936 in the last 10 years · low confidence
Phrase hits: 413 · MeSH hits: 5
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.
- 01Michaelides 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 - 02Webster AR7 papers · 2024
Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Papers in Europe PMC - 03Antropoli A5 papers · 2026
Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Papers in Europe PMC - 04Bandello 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 - 05Bianco L5 papers · 2026
Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Papers in Europe PMC - 06Kellner 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 - 07Li 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 - 08Tsang 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 - 09Wang Y5 papers · 2026
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Papers in Europe PMC - 10Weber 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 11 September 2026 · last trial check 28 July 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.
- NCT07185256·RECRUITING·Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)
Not reviewed·Conditions: ARB · BVMD · Autosomal-Dominant Bestrophinopathy · Best Vitelliform Macular Dystrophy·Matched via name + MeSH
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.
None of the matched observational studies is currently listed as recruiting.
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 61 · after dedupe 56 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 56 · 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).
Uncertain / not reviewed (56)
- isrctn·ISRCTN15509883·No longer recruiting·Bestrophin 1 treatment trial on the effectiveness of Ravicti
skipped — LLM skipped (--skip-llm)
- ctis·2023-507975-23-01·Authorised·Pain Relief at Screening for Retinopathy of Prematurity - The PROPER study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524894-17-00·Authorised, ongoing·A randomized double-masked, multicenter, 3-arm, pivotal Phase 2/3 study to evaluate the efficacy and safety of intravitreal (IVT) EYE201/MK-8748 compared to aflibercept (2 mg) in participants with neovascular age-related macular degeneration (NVAMD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523704-77-00·Authorised, ongoing·A randomized, double masked, placebo-controlled, multicenter, dose-range finding study to assess the efficacy and safety of FWY003 in patients with geographic atrophy secondary to age-related macular degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2025-520842-31-00·Authorised·ANTIPROM - Comparison of two prophylactic antibiotic regimens in case of preterm prelabor rupture of membranes before 34 weeks of gestation: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-525349-65-00·Authorised, recruiting·Open-label, safety, tolerability and proof of concept study to evaluate the use of ANXV (recombinant human Annexin A5 protein) in the treatment of patients with either Diabetic Retinopathy or recent onset Retinal Vein Occlusion
skipped — LLM skipped (--skip-llm)
- ctis·2023-509421-41-03·Authorised·AUTOP 2 : Screen-and-treat strategy for vaginal flora abnormalities by molecular biology in pregnant women at high risk of preterm birth: A Multicentre, Randomized Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-521779-30-00·Authorised·A Phase 2, Randomized, Masked, Placebo-Controlled Study of Subcutaneously Administered ADX-038 in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (AMD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522231-34-00·Authorised, ongoing·A Randomized, Double-masked, Parallel-group, Multicenter Clinical Study to Evaluate the Efficacy and Safety of AVT29 Compared with Eylea High Dose (HD) in Participants with Diabetic Macular Edema (ALVOEYE-HD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524343-13-00·Authorised·Pilot study of the efficacy of nicotinamide (vitamin B3) in Leber's hereditary optic neuropathy - NICOLHON
skipped — LLM skipped (--skip-llm)
- ctis·2023-509247-27-00·Authorised·Double blind, multicenter, randomized, controlled trial of dexmedetomidine vs placebo in premature neonates receiving invasive ventilation
skipped — LLM skipped (--skip-llm)
- ctis·2025-522387-32-00·Authorised, ongoing·A RANDOMIZED, PHASE 3, OPEN-LABEL STUDY OF NEOADJUVANT DAROVASERTIB IN SUBJECTS WITH PRIMARY NON-METASTATIC UVEAL MELANOMA (OptimUM-10)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522970-35-00·Authorised, ongoing·REVERsal to normoglycemia by Treating PREDIABETES: the REVERT-PREDIABETES trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521397-34-00·Authorised, ongoing·Colchicine to reduce microvascular complications in people with type 1 diabetes and high glycemic variability
skipped — LLM skipped (--skip-llm)
- ctis·2024-520425-37-00·Authorised·A Phase 1/2 Open-label, Multi-centre, Dose-exploration Trial to Evaluate the Safety and Preliminary Efficacy of VG801 via Subretinal Injection in Treatment of Patients with Biallelic ABCA4 Mutation-Associated Retinal Dystrophy.
skipped — LLM skipped (--skip-llm)
- ctis·2024-516924-32-00·Authorised, ongoing·A phase IIIb, Multicenter, Single-Arm Study Assessing the Effectiveness, Safety and Patient Reported Outcomes of a 36-week Refill Exchange Regimen for the Port Delivery System with Ranibizumab in Patients with Neovascular Age-Related Macular Degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2024-515199-10-01·Expired·A Double-masked, Randomized, Sham-Controlled Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects with Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene
skipped — LLM skipped (--skip-llm)
- ctis·2024-518758-18-02·Authorised, ongoing·Phase I, single and multiple ascending dose, randomized, double-blind, placebo-controlled, parallel-group clinical trial to evaluate the safety, tolerability and pharmacokinetics of topical ocular administration of DS101 in healthy subjects.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-515640-22-00·Authorised, ongoing·A phase IV, multicentre, open-label, single-arm study to investigate the efficacy, safety and durability of faricimab (RO6867461) in caucasian patients with polypoidal choroidal vasculopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-515078-28-00·Cancelled·A phase 1, open-label trial in healthy subjects and in subjects with diabetes investigating pharmacokinetics, tolerability, safety, and food effect following single and multiple dosing of danegaptide
skipped — LLM skipped (--skip-llm)
- ctis·2024-518969-98-00·Cancelled·A Phase 3, Multi-Center, Randomized, Parallel, Double Masked, Placebo-Controlled Clinical Study to Assess the Safety and Efficacy of 0.1% RGN-259 Ophthalmic Solution for the Treatment of Neurotrophic Keratopathy (SEER-2)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509547-27-00·Authorised, ongoing·A Multicenter, Randomized, Double-Masked, Placebo-Controlled Phase 3 Study of the Efficacy, Safety, and Tolerability of Subcutaneously Administered Pozelimab in Combination with Cemdisiran or Cemdisiran Alone in Participants with Geographic Atrophy Secondary to Age-Related Macular Degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2024-515022-88-00·Expired·A Phase 3, Multicenter, Randomized, Parallel-Group, Double-Masked, 2-Arm, Sham Controlled Study of the Efficacy, Safety, and Tolerability of ANX007 (Vonaprument) Administered by Intravitreal Injection in Participants with Dry Age-Related Macular Degeneration with Geographic Atrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-510944-30-00·Expired·A RANDOMIZED, DOUBLE-MASKED, MULTI-CENTER, 3-ARM PHASE 2/3 STUDY TO EVALUATE THE EFFICACY AND SAFETY OF INTRAVITREAL EYE103 COMPARED WITH INTRAVITREAL RANIBIZUMAB (0.5MG) IN PARTICIPANTS WITH DIABETIC MACULAR EDEMA
skipped — LLM skipped (--skip-llm)
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 Autosomal recessive bestrophinopathy — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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") OR (MESH:"Bestrophinopathy") OR ("BEST1" OR "BEST1 syndrome" OR "BEST1-related")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"
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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 (2693) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:36:55.888Z