RVCL - Retinal Vasculopathy with Cerebral Leukodystrophy
Retinal Vasculopathy (RV) is a disease of the blood vessels in the retina. Cerebral Leukodystrophy (CL) means: a progressive degeneration of the white matter of the nervous system.
Retinal vasculopathy is a rare genetic disease that manifests itself in adults.
It is a condition in which the small blood vessels of the brains are affected which results in deterioration of the central nervous system. Worldwide, there are about ten families in which the disease occurs. Because of the fact that the disease is so rare, it is difficult to estimate how often the disease is missed in diagnosis. Because the disease manifests itself later in life (around or after the age of 40), the disease has often already been passed on to the next generation.
Typical for RVCL is a white matter abnormality at a young age, pseudo tumors, cognitive impairment and dementia.
The ‘white matter’ is located inside the brains. On the outside of the brains is the ‘grey matter', which are the brain cells. 'White matter’ (myelin) refers to the offshoots of the brain cells. These enable the different parts of the brains to be interconnected. Damage to the small blood vessels in the brains can be seen on an MRI scan as so-called white matter abnormalities. The image below is from this website.
The disease manifests itself in a different way in each one, but it is known that it can be accompanied by:
- Progressive loss of vision / visual acuity (retina)
- Motor disorders, hemiparesis
- Cognitive decline
- Progressive neurological deterioration
- "grand mal epilepsy," tonic-clonic seizures (convulsions: shaking paroxysmal movements of arms and legs, associated with loss of consciousness)
In other body parts or organs blood vessels can also be affected. By this, the following consequences can occur:
- Raynaud's phenomenon; blue white discoloration in cold fingers
- Kidney problems (nephropathy)
- Liver problems
The disease is autosomal dominant, which means that children of a person with RVCL have a 50% chance to also get the disease, regardless of the sex of the parent or the child. The drawing below indicates in yellow the person with RVCL and in blue the healthy person.
In 2007, the gene that causes the disease was found: TREX1 gene on chromosome 3. This TREX1 gene mutates.
Prior to the discovery of the gene, RVCL was referred to with several names, such as: “cerebroretinal vasculopathy” (CRV), “hereditary vascular retinopathy” (HVR) en “hereditary endotheliopathy, retinopathy, nephropathy and stroke” (HERNS).
In English, the condition is also called CHARIOT: : Cerebral Hereditary Angiopathy with vascular Retinopathy and Impaired Organ function caused by TREX1 mutations.
- MRI scan (Magnetic Resonance Imaging) shows white matter abnormalities
- CT scan (computerized tomography) of the brains shows white matter abnormalities in the brains.
- DNA test reveals a deviation in the TREX1 gene
RVCL is one of the three CHA diseases (Cerebral Hereditary Arteriopathy diseases, inherited diseases of the small cerebral vessels). The others are:
- CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
- Congenital CAA and HCHWA-D (hereditary cerebral haemorrhage with amyloidosis-Dutch type), formerly known as 'Katwijkse ziekte' (Katwijk disease)
The Dutch Leiden University Medical Center has a special outpatient clinic for people with hereditary cerebral angiopathies.
More research in the Netherlands: