ORPHA:75376
Autosomal dominant drusen
Also known as: ADD · DHRD · Dominant drusen · Dominant radial drusen · Doyne honeycomb retinal dystrophy · Familial drusen · Malattia leventinese
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
465
80.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,104
Distinct authors in sample
Gene link
EFEMP1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic macular disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.
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:0007471
- OMIM:126600
- UMLS:C1832174
Additional Mondo synonyms (3)
Doyne honeycomb degeneration of retina · dominant drusen · dominant radial drusen
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — EFEMP1
- LiteraturePresent
465 matched papers (224 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (EFEMP1).
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?
465
465 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.
465 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).
224 in the last 10 years · medium confidence · 80.4th percentile (publications denominator)
Phrase hits: 465 · MeSH hits: 0
Who's working on it?
1,104
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.
- 01Hulleman JD13 papers · 2025
Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, USA. John.Hulleman@UTSouthwestern.edu.
Papers in Europe PMC - 02Michaelides M12 papers · 2026
Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 03Webster AR10 papers · 2026
Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 04Mahroo OA7 papers · 2025
Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 05Bird AC6 papers · 2002Papers in Europe PMC
- 06Chen FK5 papers · 2025
Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Perth WA 6009, Australia. fredchen@lei.org.au.
Papers in Europe PMC - 07Collier GE5 papers · 2025
Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Papers in Europe PMC - 08Daniel S5 papers · 2025
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 2001 6th St. SE, Minneapolis, MN 55455, United States.
Papers in Europe PMC - 09de Guimarães TAC5 papers · 2026
Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 10
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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 dominant drusen" OR "Dominant drusen" OR "Dominant radial drusen" OR "Doyne honeycomb retinal dystrophy" OR "Familial drusen" OR "Malattia leventinese" OR "Doyne honeycomb degeneration of retina" OR "Doyne honeycomb degeneration of the retina"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant drusen" OR "Dominant drusen" OR "Dominant radial drusen" OR "Doyne honeycomb retinal dystrophy" OR "Familial drusen" OR "Malattia leventinese" OR "Doyne honeycomb degeneration of retina" OR "Doyne honeycomb degeneration of the retina" OR "EFEMP1"
Recall-expansion terms: EFEMP1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ADD; DHRD
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
Ingested 2026-07-27T01:47:35.321Z