Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations

Alternate names

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

Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs.

Epidemiology

• 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

• 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

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

• 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

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

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

• 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

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

• NIH info on Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations

Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations is a rare disease.