International RVCL Patient and Family Registry

 
RVCL Families
Sisters, Fran & Laura.  Like many other families with RVCL, their family has been affected for multiple generations.

Making Connections within and among Families

Even though retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S) is rare, it has a huge impact on the affected families. Because RVCL has a dominant inheritance pattern, approximately 50% of family members are affected.
RVCL affects people of all races and ethnicities, and patients with RVCL have been identified in countries around the world. It is common for RVCL patients to initially be diagnosed as having another disease like multiple sclerosis. However, because genetic testing is becoming more common, we anticipate that many other patients and families with RVCL will be identified in the coming months and years.
Many patients with RVCL have expressed interest in finding ways to get to know each other. Some have also expressed interest in setting up regular Zoom meetings as part of support groups. Please contact us if you would like to opt in to meeting other families with RVCL.
RVCL Map
There are many patients and families with RVCL around the world, and many more remain to be found. RVCL (also known as HERNS or RVCL-S) is frequently misdiagnosed as multiple sclerosis, lupus, CNS vasculitis, diabetic retinopathy, or brain cancer. We work with patients and families to correctly diagnose RVCL by sequencing the TREX1 gene.

International RVCL Registry

We are working with our colleagues at other institutions, including institutions from Europe and Asia, to assemble an international registry of RVCL patients. This is especially important to help facilitate multinational clinical research and clinical trials so that we can find an effective therapy for RVCL. Please contact us if you are interested in having your information included in a registry.

RVCL-S / RVCLLearn more by exploring these links:

* RVCL or RVCL-S stands for retinal vasculopathy with cerebral leukoencephalopathy (and systemic manifestations), also known as retinal vasculopathy with cerebral leukodystrophy, cerebroretinal vasculopathy (CRV), or hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).