ORPHA:86813
Helicoid peripapillary chorioretinal degeneration
Also known as: Atrophia areata · SCRA · Sveinsson chorioretinal atrophy
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
59
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
242
Distinct authors in sample
Gene link
TEAD1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Helicoid peripapillary chorioretinal degeneration is a rare dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. anterior polar cataracts are sometimes associated with this disease.
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:0007176
- MeSH:C566236
- OMIM:108985
- UMLS:C1862382
Additional Mondo synonyms (1)
atrophia areata
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
Strong — TEAD1
- LiteraturePresent
59 matched papers (34 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 (TEAD1).
GenCC classification: Strong.
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?
59
59 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.
59 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).
34 in the last 10 years · medium confidence · 46.2th percentile (publications denominator)
Phrase hits: 59 · MeSH hits: 0
Who's working on it?
242
Distinct author names in 59 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.
- 01Guan KL4 papers · 2021
Department of Pharmacology and Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: kuguan@ucsd.edu.
Papers in Europe PMC - 02Eysteinsson T3 papers · 2021
Department of Ophthalmology, University of Iceland, Reykjavik, Iceland.
Papers in Europe PMC - 03Jonasson F3 papers · 2007
Department of Ophthalmology, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. fridbert@landspitali.is
Papers in Europe PMC - 04Pan D3 papers · 2021
Department of Molecular Biology and Genetics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. djpan@jhmi.edu
Papers in Europe PMC - 05Bird AC2 papers · 1998Papers in Europe PMC
- 06Fossdal R2 papers · 2004
Department of Medical Genetics, Blood Bank, Reykjavik, Iceland.
Papers in Europe PMC - 07Gupta A2 papers · 2023
Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Papers in Europe PMC - 08Klintworth GK2 papers · 2007Papers in Europe PMC
- 09
- 10Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
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 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.
"Helicoid peripapillary chorioretinal degeneration" OR "Atrophia areata" OR "Sveinsson chorioretinal atrophy"
MeSH descriptor terms unioned into the query: Sveinsson Chorioretinal Atrophy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Helicoid peripapillary chorioretinal degeneration" OR "Atrophia areata" OR "Sveinsson chorioretinal atrophy" OR "TEAD1"
Recall-expansion terms: TEAD1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SCRA
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 2026-07-27T03:05:43.862Z