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ORPHA:247691

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

medium confidenceDisorder

Also known as: RVCL · RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy

Publications

182

74.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,030

Distinct authors in sample

Gene link

TREX1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic cerebral small vessel disease characterized by loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and , among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

hereditary vascular retinopathy · retinal vasculopathy and cerebral leukoencephalopathy · vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TREX1

  2. LiteraturePresent

    182 matched papers (152 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (TREX1).

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?

182

182 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.

182 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).

152 in the last 10 years · medium confidence · 74.2th percentile (publications denominator)

Phrase hits: 182 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,030

Distinct author names in 182 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Terwindt GM17 papers · 2024

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  2. 02
    Miner JJ13 papers · 2026

    Department of Medicine and Microbiology, RVCL Research Center, and Colton Center for Autoimmunity, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  3. 03
    de Boer I10 papers · 2024

    Leiden University Medical Center, Leiden, the Netherlands.

    Papers in Europe PMC
  4. 04
    Pelzer N9 papers · 2024

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  5. 05
    Atkinson JP8 papers · 2026

    Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO.

    Papers in Europe PMC
  6. 06
    Ferrari MD7 papers · 2019

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  7. 07
    van den Maagdenberg AMJM7 papers · 2020

    Leiden University Medical Center, Leiden, the Netherlands.

    Papers in Europe PMC
  8. 08
    Ford AL6 papers · 2026

    From the Department of Neurology (A.L.F., V.W.C., S.F., M.B.M., A.M.B., V.B., Y.T., P.K., Y.C., J.H., J.-M.L.), Mallinckrodt Institute of Radiology (A.L.F., J.-M.L., H.A.), Department of Ophthalmology (M.G.G.), and Department of Medicine (M.B., M.K.L., D.H., J.J.M., J.P.A.), Division of Rheumatology, Washington University School of Medicine, St. Louis, MO; Department of Radiology (D.L.), The Johns Hopkins University School of Medicine, Baltimore, MD; and Department of Neurology (J.C.J.), Icahn School of Medicine at Mount Sinai, New York, NY. forda@wustl.edu.

    Papers in Europe PMC
  9. 09
    Jen JC6 papers · 2021

    Departments of Neurology and Neurobiology, UCLA School of Medicine, Los Angeles, CA.

    Papers in Europe PMC
  10. 10
    Kruit MC6 papers · 2026

    Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" OR "RVCL-S" OR "Retinal vasculopathy and cerebral leukoencephalopathy" OR "hereditary vascular retinopathy" OR "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Vasculopathy, Retinal, With Cerebral Leukodystrophy

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" OR "RVCL-S" OR "Retinal vasculopathy and cerebral leukoencephalopathy" OR "hereditary vascular retinopathy" OR "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" OR "Vasculopathy, Retinal, With Cerebral Leukodystrophy" OR "TREX1"

Recall-expansion terms: TREX1

Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RVCL

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "hereditary vascular retinopathy" also appears on ORPHA:71291

Ingested 2026-07-27T10:34:55.088Z