Living with Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
A rare genetic condition of small blood vessels that can affect vision, the brain, kidneys, and liver, starting in adulthood.
Understanding Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Symptoms begin in adulthood. They can include vision loss, Raynaud's disease (fingers that turn pale in the cold), kidney and liver disease, and thinking problems that get worse over time. Diagnosis is based on symptoms, an exam, and brain imaging, and may be confirmed by genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vision problems from retina blood vessel changes
- Thinking and memory problems (cognitive impairment)
- Migraine
- Raynaud phenomenon
- Kidney disease (nephropathy)
- Liver changes (nodular regenerative hyperplasia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TREX1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Leukodystrophy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TREX1 gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: cerebroretinal vasculopathy, hereditary; hereditary vascular retinopathy; retinal vasculopathy and cerebral leukoencephalopathy; retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena; rvcl; rvcl - retinal vasculopathy cerebral leukoencephalopathy
Patient organizations
- United Leukodystrophy FoundationRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations · United States
You are more than your diagnosis
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