Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
(Redirected from Retinal vasculopathy with cerebral leukodystrophy)
Alternate names[edit | edit source]
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
Definition[edit | edit source]
Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs.
Epidemiology[edit | edit source]
- There are about 200 reports of people with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) in the medical literature.
- It is not known exactly how many people have this condition.
Cause[edit | edit source]
- 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.
- The TREX1 gene provides instructions for making the 3-prime repair exonuclease 1 enzyme.
- This enzyme is a DNA exonuclease, which means that it trims molecules of DNA by removing DNA building blocks (nucleotides) from the ends of the molecules.
- In this way, it breaks down unneeded DNA molecules or fragments that may be generated during copying (replication) of cells' genetic material in preparation for cell division.
- These fragments may also be generated during DNA repair, cell death (apoptosis), and other processes.
Inheritance[edit | edit source]
- 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.
onset[edit | edit source]
Symptoms begin in adulthood.
- 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.
Signs and symptoms[edit | edit source]
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
Diagnosis[edit | edit source]
- 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.
Treatment[edit | edit source]
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
NIH genetic and rare disease info[edit source]
Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations is a rare disease.
Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations Resources | ||
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