Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://covid19.nih.gov (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Statistics
    • Find a Specialist
    • Research
    • Organizations
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations


Title




Other Names:
Cerebroretinal vasculopathy, hereditary; CRV; Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; Cerebroretinal vasculopathy, hereditary; CRV; Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; RVCL; Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy; ADRVCL; Retinal vasculopathy and cerebral leukoencephalopathy; RVCL-S See More
Categories:
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases; Nervous System Diseases See More
Subtypes:
Hereditary vascular retinopathy

Summary Summary


Listen
Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs. Symptoms begin in adulthood and can include loss of vision, Raynaud's disease, kidney and liver disease, and cognitive problems that get worse over time. Other symptoms may include migraines, gastrointestinal bleeding, and hypothyroidism. Death often occurs 10-15 years after the first symptoms appear. RVCL-S is caused by genetic variations in the TREX1 gene, and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.[1][2][3]

RVCL-S is considered to include the following three diseases which were previously thought to be separate conditions: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR).[1]
Last updated: 9/29/2020

Symptoms Symptoms


Listen
The following list includes the most common signs and symptoms in people with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of RVCL-S may include:[1][2][3]
  • Vision problems due to retina damage (retinopathy)
  • Raynaud's disease
  • Kidney disease
  • Liver disease
  • Gastrointestinal bleeding
  • Hypertension
  • Cognitive problems
  • Psychiatric disorders
The first symptoms are Raynaud's disease and vision problems which may occur in the 20s. Vision problems tend to lead to blindness. Kidney and liver disease may occur in the 30s. Brain disease starts in the 40-50s. The symptoms of RVCL-S get worse over time, often leading to death in 10 to 15 years.[2][3]
Last updated: 9/29/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 69 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Raynaud phenomenon 0030880
30%-79% of people have these symptoms
Abnormality of the hepatic vasculature
Abnormality of liver blood vessels
0006707
Brain imaging abnormality 0410263
Compensated hypothyroidism 0008223
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ]
0003155
Elevated gamma-glutamyltransferase level 0030948
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ]
0003259
Glomerular sclerosis 0000096
Hypertension 0000822
Nephropathy 0000112
Nodular regenerative hyperplasia of liver 0011954
Normochromic anemia 0001895
Normocytic anemia 0001897
Proteinuria
High urine protein levels
Protein in urine
[ more ]
0000093
5%-29% of people have these symptoms
Anxiety
Excessive, persistent worry and fear
0000739
Apathy
Lack of feeling, emotion, interest
0000741
Aphasia
Difficulty finding words
Losing words
Loss of words
[ more ]
0002381
Cardiomyopathy
Disease of the heart muscle
0001638
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Depressivity
Depression
0000716
Focal hyperintensity of cerebral white matter on MRI 0040328
Focal hypointensity of cerebral white matter on MRI 0040331
Focal sensory seizure with somatosensory features 0011163
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Generalized-onset seizure 0002197
Glaucoma 0000501
Hemianopia 0012377
Hemiparesis
Weakness of one side of body
0001269
Irritability
Irritable
0000737
Macular edema 0040049
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
0002354
Micronodular cirrhosis 0001413
Migraine with aura 0002077
Migraine without aura 0002083
Pneumonia 0002090
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Psychosis 0000709
Retinal cotton wool spot 0031606
Retinal neovascularization 0030666
Sepsis
Infection in blood stream
0100806
Telangiectasia 0001009
Weakness of facial musculature
Decreased facial muscle strength
Decreased strength of facial muscles
Face weakness
Facial muscle weakness
Facial weakness
Reduced facial muscle strength
Weakness of face
[ more ]
0030319
1%-4% of people have these symptoms
Avascular necrosis of the capital femoral epiphysis 0005743
Punctate vasculitis skin lesions 0200030
Skin rash 0000988
Percent of people who have these symptoms is not available through HPO
Abnormality of the periventricular white matter 0002518
Adult onset
Symptoms begin in adulthood
0003581
Apraxia 0002186
Autosomal dominant inheritance 0000006
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
0000708
Central nervous system degeneration 0007009
Dementia
Dementia, progressive
Progressive dementia
[ more ]
0000726
Diminished ability to concentrate
Poor concentration
0031987
Dysarthria
Difficulty articulating speech
0001260
Elevated erythrocyte sedimentation rate
High ESR
0003565
Elevated hepatic transaminase
High liver enzymes
0002910
Hematuria
Blood in urine
0000790
Limb pain 0009763
Lower limb hyperreflexia
Overactive lower leg reflex
0002395
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
0002076
Progressive
Worsens with time
0003676
Progressive forgetfulness 0007017
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
0000529
Retinal exudate 0001147
Retinal hemorrhage
Retinal bleeding
0000573
Seizure 0001250
Stroke 0001297
Vasculitis in the skin 0200029
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
Showing of 69 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


Listen
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is caused by the TREX1 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1]
Last updated: 9/29/2020

Inheritance Inheritance


Listen
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is inherited in an autosomal dominant pattern.[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family.
  
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 9/29/2020

Diagnosis Diagnosis


Listen
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is diagnosed based on the symptoms, clinical examination, and imaging studies of the brain. The diagnosis can be confirmed based on the results of genetic testing.[1][3]
Last updated: 9/29/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment


Listen
Treatment of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is focused on managing the symptoms.

Specialists involved in the care of someone with RVCL-S may include:[1]
  • Ophthalmologist
  • Neurologist
  • Nephrologist
  • Liver specialist
  • Endocrinologist
  • Hematologist
  • Rheumatologist
Last updated: 9/29/2020

Statistics Statistics


Listen
There are about 200 reports of people with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) in the medical literature.[4] It is not known exactly how many people have this condition. 
Last updated: 9/29/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


Listen

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


Listen

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations:
    Myelin Disorders Bioregistry Project
     

Organizations Organizations


Listen

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Energy 4 a Cure Foundation
    5000 Eldorado Parkway, Suite 150, #403
    Firsco, TX 75033
    Telephone: 281-825-2854
    E-mail: info@RVCLresearch.org
    Website: http://www.rvclresearch.org/index.php

Organizations Providing General Support

Do you know of an organization? We want to hear from you.

Learn More Learn More


Listen

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus Genetics contains information on Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. de Boer I, Pelzer N, Terwindt G. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. GeneReviews. Updated Sept 19, 2020; https://www.ncbi.nlm.nih.gov/books/NBK546576.
  2. Pelzer N, Hoogeveen ES, Haan J, Bunnik R, Poot CC, et al. Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease.. J Intern Med. Mar 2019; 285(3):317-332. https://pubmed.ncbi.nlm.nih.gov/30411414.
  3. Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain. Nov. 1, 2016; 139(11):2902-2922. https://pubmed.ncbi.nlm.nih.gov/27604306.
  4. Ford AL, Chin VW, Fellah S, Binkley MM, Bodin AM, et al. Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy. Neurology. Sep 2020; 4:10. https://pubmed.ncbi.nlm.nih.gov/32887784.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen