What is the definition of Retinal Vasculopathy with Cerebral Leukodystrophy?

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. 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).

What are the alternative names for Retinal Vasculopathy with Cerebral Leukodystrophy?

  • 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

What are the causes for Retinal Vasculopathy with Cerebral Leukodystrophy?

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.

What are the symptoms for Retinal Vasculopathy with Cerebral Leukodystrophy?

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:
  • 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.

What are the current treatments for Retinal Vasculopathy with Cerebral Leukodystrophy?

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:
  • Ophthalmologist
  • Neurologist
  • Nephrologist
  • Liver specialist
  • Endocrinologist
  • Hematologist
  • Rheumatologist

Is Retinal Vasculopathy with Cerebral Leukodystrophy an inherited disorder?

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is inherited in an autosomal dominant pattern. 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.

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