Retinal Vasculopathy with Cerebral Leukoencephalopathy
RVCL is an ultra-rare disease that is characterized by the deterioration of small blood vessels. The condition is often misdiagnosed because symptoms vary from patient to patient and resemble other diseases. RVCL causes vascular dementia due to a single-gene mutation, and vascular dementia is included among Alzheimer’s disease-related dementias.
The Clayco Foundation is a 501(c)(3) organization dedicated to providing education and support for patients, researchers, and doctors.
What is RVCL?
- RVCL is a rare genetic condition that causes deterioration of small blood vessels
- Early symptoms typically include vision loss and mild strokes to the brain
- Symptoms typically appear in patients between the ages of 30 and 50
- The condition can be identified by testing for a mutation in the TREX1 gene
- Often misdiagnosed as multiple sclerosis, brain cancer, brain tumors, diabetes, or undiagnosed
- There is meaningful research underway to find treatments or a cure for RVCL
- A phase II clinical trial is currently underway using a repurposed drug approved by the FDA
- Identifying more patients with RVCL is essential to find a treatment or cure
About The Foundation
The Clayco Foundation is a 501(c)(3) organization dedicated to providing education and support for patients, researchers, and doctors. Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL) is a rare genetic disorder that causes progressive damage to the brain, eye, kidney, and liver. There is currently no cure for RVCL, something The Clayco Foundation aims to change.
Due to the extremely rare occurrence of the disease, patients have a difficult time finding doctors that can quickly or accurately diagnose RVCL. Due to the overlapping symptoms with more common diseases, patients can often be misdiagnosed with multiple sclerosis, diabetes, SLE, vasculitis, and brain tumors. Nonetheless, if these RVCL patients can be diagnosed earlier, research efforts can be furthered, and these patients need not go through unnecessary treatments and procedures. Helping patients, doctors, and researchers dealing with RVCL is a primary focus of The Clayco Foundation.
Educating Our Community
While the symptoms of RVCL can mimic those of other diseases, there is a definitive genetic test available for RVCL. Given the potential seriousness of the diagnosis, it is highly advised that prospective patients work with us and/or a genetic counselor before genetic testing.
One of the top missions of The Clayco Foundation RVCL Venture effort is to provide financial support for innovative research projects which may further our scientific understanding of RVCL and potential treatment options.