ORPHA:99000
Adult-onset foveomacular vitelliform dystrophy
Also known as: AOFMD · AVMD · Adult-onset foveomacular dystrophy · Adult-onset foveomacular dystrophy with choroidal neovascularization · Adult-onset vitelliform macular dystrophy · Gass disease · Pseudo-Best disease · Pseudo-vitelliform macular dystrophy
Publications
338
68th percentile
Trials
0
Interventional, condition-specific
Researchers
993
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, macular characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011979
- UMLS:C1842914
Additional Mondo synonyms (6)
adult-onset foveomacular dystrophy · adult-onset foveomacular dystrophy with choroidal neovascularization · adult-onset vitelliform macular dystrophy · macular dystrophy, vitelliform, type 3 · pseudo-Best disease · pseudo-vitelliform macular dystrophy
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
338 matched papers (197 in last 10 years) Source
- Phenotype characterisedPresent
34 HPO annotations (e.g. Macular dystrophy; Vitelliform macular lesion; Reduced visual acuity) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
34
Associated phenotypes · MONDO:0011979
- Macular dystrophy
- Vitelliform macular lesion
- Reduced visual acuity
- Central scotoma
Showing 4 of 34 — 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?
338
338 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=3967) is 59.
338 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).
197 in the last 10 years · medium confidence · 68th percentile (publications denominator)
Phrase hits: 338 · MeSH hits: 0
Who's working on it?
993
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.
- 01Querques G14 papers · 2026
Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, University Paris Est Créteil, 94000 Créteil, France.
Papers in Europe PMC - 02Chowers I10 papers · 2026
Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel. Electronic address: chowers@hadassah.org.il.
Papers in Europe PMC - 03Souied EH10 papers · 2026
Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Papers in Europe PMC - 04Tiosano L8 papers · 2026
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem - Israel.
Papers in Europe PMC - 05Banin E6 papers · 2024
Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
Papers in Europe PMC - 06Grunin M6 papers · 2024
Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
Papers in Europe PMC - 07Averbukh E5 papers · 2021
Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
Papers in Europe PMC - 08Bandello F5 papers · 2024
Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy.
Papers in Europe PMC - 09Fragiotta S5 papers · 2026
NESMOS Department, Ophthalmology Unit, St. Andrea Hospital, University of Rome "La Sapienza", Rome, Italy.
Papers in Europe PMC - 10Puche N5 papers · 2014
Department of Ophthalmology, Centre Hospitalier Intercommunal de Creteil, University Paris XII, Creteil 94000, France.
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.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Adult-onset foveomacular vitelliform dystrophy — 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.
"Adult-onset foveomacular vitelliform dystrophy" OR "AOFMD" OR "Adult-onset foveomacular dystrophy" OR "Adult-onset foveomacular dystrophy with choroidal neovascularization" OR "Adult-onset vitelliform macular dystrophy" OR "Gass disease" OR "Pseudo-Best disease" OR "Pseudo-vitelliform macular dystrophy" OR "macular dystrophy, vitelliform, type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adult-onset foveomacular vitelliform dystrophy" OR "AOFMD" OR "Adult-onset foveomacular dystrophy" OR "Adult-onset foveomacular dystrophy with choroidal neovascularization" OR "Adult-onset vitelliform macular dystrophy" OR "Gass disease" OR "Pseudo-Best disease" OR "Pseudo-vitelliform macular dystrophy" OR "macular dystrophy, vitelliform, type 3"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AVMD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:52:38.697Z