ORPHA:71291
Hereditary vascular retinopathy
Also known as: HVR · Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome
Is anyone studying this?
48
48 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=183) is 38.
48 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
22 in the last 10 years · low confidence
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
270
Distinct author names in 48 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.
- 01Atkinson JP4 papers · 2018
Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO.
Papers in Europe PMC - 02Kothari PH4 papers · 2018
Department of Biology and Biomedical Sciences Human & Statistical Genetics Program, Washington University School of Medicine, St. Louis, MO.
Papers in Europe PMC - 03Terwindt GM4 papers · 2022
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Papers in Europe PMC - 04Ferrari MD3 papers · 2016
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Papers in Europe PMC - 05Frants RR3 papers · 2016
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Papers in Europe PMC - 06Haan J3 papers · 2016
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Papers in Europe PMC - 07Jen JC3 papers · 2018
Departments of Neurology and Neurobiology, UCLA School of Medicine, Los Angeles, CA.
Papers in Europe PMC - 08Kolar GR3 papers · 2018
Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO.
Papers in Europe PMC - 09Meschia JF3 papers · 2014
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. meschia.james@mayo.edu
Papers in Europe PMC - 10Schmidt RE3 papers · 2018
Department of Pathology and Immunology, Division of Neuropathology, Washington University School of Medicine, St. Louis, MO.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Hereditary vascular retinopathy" OR "Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary vascular retinopathy" OR "Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HVR
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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low