ORPHA:99001
Butterfly-shaped pigment dystrophy
Also known as: Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
116
53.6th percentile
Trials
0
Interventional, condition-specific
Researchers
597
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare patterned of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly loss of vision that often only becomes apparent in old age.
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:0100466
- UMLS:C4511237
Additional Mondo synonyms (3)
butterfly-shaped pattern dystrophy · butterfly-shaped pigment dystrophy · butterfly-shaped pigmentary 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.”
1/6 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
116 matched papers (51 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
116
116 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.
116 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).
51 in the last 10 years · high confidence · 53.6th percentile (publications denominator)
Phrase hits: 116 · MeSH hits: 0
Who's working on it?
597
Distinct author names in 116 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.
- 01Hoyng CB7 papers · 2021
Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Papers in Europe PMC - 02Cremers FP5 papers · 2016
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Papers in Europe PMC - 03den Hollander AI5 papers · 2021
Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Papers in Europe PMC - 04Deutman AF5 papers · 2004Papers in Europe PMC
- 05Conley SM4 papers · 2020
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104.
Papers in Europe PMC - 06Moore AT4 papers · 2021
UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom; Department of Ophthalmology, University of California, San Francisco, School of Medicine, San Francisco, California.
Papers in Europe PMC - 07Naash MI4 papers · 2020
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104.
Papers in Europe PMC - 08Nichols BE4 papers · 1994
Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242.
Papers in Europe PMC - 09Sheffield VC4 papers · 1994Papers in Europe PMC
- 10Stone EM4 papers · 1994Papers 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 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.
high 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.
"Butterfly-shaped pigment dystrophy" OR "Butterfly-shaped pattern dystrophy" OR "Butterfly-shaped pigmentary macular dystrophy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Butterfly-shaped pigment dystrophy" OR "Butterfly-shaped pattern dystrophy" OR "Butterfly-shaped pigmentary macular dystrophy" OR "patterned dystrophy of the retinal pigment epithelium" OR "hereditary macular dystrophy"
Recall-expansion terms: patterned dystrophy of the retinal pigment epithelium, hereditary macular dystrophy
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:52:46.961Z