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ORPHA:1243

Best vitelliform macular dystrophy

low confidenceDisorder

Also known as: BMD · BVMD · Best disease · Best macular dystrophy · Early-onset vitelliform macular dystrophy · Juvenile-onset vitelliform macular dystrophy · Polymorphic vitelline macular degeneration · Vitelliform macular dystrophy type 2

Publications

3,978

Trials

2

Interventional, condition-specific

Researchers

1,144

Distinct authors in sample

Gene link

BEST1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Best vitelliform macular (BVMD) is a genetic macular characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.

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 (10)

BEST1 retinopathy · Best Vitelliform Macular Dystrophy · early-onset vitelliform macular dystrophy · juvenile-onset vitelliform macular dystrophy · macular degeneration, polymorphic vitelline · macular dystrophy, vitelliform, type 2 · polymorphic vitelline macular degeneration · vitelliform macular dystrophy type 2 · vitelliform macular dystrophy, early-onset · vitelliform macular dystrophy, juvenile-onset

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — BEST1

  2. LiteraturePresent

    3,978 matched papers (2,674 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Visual impairment; Chorioretinal scalloped atrophy; Color vision defect) 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

    2 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)

12

Associated phenotypes · MONDO:0007931

  • Visual impairment
  • Chorioretinal scalloped atrophy
  • Color vision defect
  • Metamorphopsia
  • Visual field defect

Showing 5 of 12 — 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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,978

3,978 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.

3,978 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).

2,674 in the last 10 years · low confidence

Phrase hits: 2,108 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,144

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
    Bandello F15 papers · 2026

    Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Arrigo A13 papers · 2026

    Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Battaglia Parodi M11 papers · 2026

    Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Tsang SH8 papers · 2025

    Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia Stem Cell Initiative, Departments of Ophthalmology Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

    Papers in Europe PMC
  5. 05
    Li Y7 papers · 2026

    Beijing Institute of Ophthalmology, Beijing Tong ren Eye Center, Beijing Ophthalmology and Visual Science Key Lab, Beijing Tong ren Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  6. 06
    Romano F6 papers · 2024

    Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy. Electronic address: f.romano@studenti.unisr.it.

    Papers in Europe PMC
  7. 07
    Antropoli A5 papers · 2026

    Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Bianco L5 papers · 2026

    Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Padhy SK5 papers · 2026

    Anant Bajaj Retina Institute, LV Prasad Eye Institute, Mithu Tulsi Chanrai Campus, Bhubaneswar, 751024, India. srikanta.padhy@lvpei.org.

    Papers in Europe PMC
  10. 10
    Parodi MB5 papers · 2022

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1 trial are registered for vitelliform macular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: vitelliform macular dystrophy

1

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.

Observational and natural-history studies

6 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

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 50 · after dedupe 50 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 50 · 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 (50)

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 Best vitelliform macular dystrophy — 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.

("Best vitelliform macular dystrophy" OR "Best disease" OR "Best macular dystrophy" OR "Early-onset vitelliform macular dystrophy" OR "Juvenile-onset vitelliform macular dystrophy" OR "Polymorphic vitelline macular degeneration" OR "Vitelliform macular dystrophy type 2" OR "BEST1 retinopathy" OR "macular degeneration, polymorphic vitelline" OR "macular dystrophy, vitelliform, type 2" OR "vitelliform macular dystrophy, early-onset" OR "vitelliform macular dystrophy, juvenile-onset") OR ("BEST1" OR "BEST1 syndrome" OR "BEST1-related")

Run this search on Europe PMC

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

"Best vitelliform macular dystrophy" OR "Best disease" OR "Best macular dystrophy" OR "Early-onset vitelliform macular dystrophy" OR "Juvenile-onset vitelliform macular dystrophy" OR "Polymorphic vitelline macular degeneration" OR "Vitelliform macular dystrophy type 2" OR "BEST1 retinopathy" OR "macular degeneration, polymorphic vitelline" OR "macular dystrophy, vitelliform, type 2" OR "vitelliform macular dystrophy, early-onset" OR "vitelliform macular dystrophy, juvenile-onset"

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: 2 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"vitelliform macular dystrophy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BMD; BVMD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3978) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T16:49:11.148Z