RVCL is autosomal dominant, caused by TREX1 frameshift mutations, and results in premature death in 100% of patients. RVCL patients have white matter lesions and retinopathy that does not respond to immunosuppression.
RVCL can present similarly to:
- Multiple sclerosis
- CNS and retinal vasculopathy
- CNS lymphoma
- Brain tumor
- One hundred percent of RVCL patients develop brain and eye lesions.
Do you have a patient simultaneously presenting with brain lesions and retinopathy?
Does your patient have a family history of mysterious or premature death due to any of the above conditions?
IF you believe you have a potential RVCL patient, the next critical steps are:
- Reach out to us in the contact form below. We will connect you immediately with an RVCL expert physician from the University of Pennsylvania or Washington University in Saint Louis.
- Prior to obtaining a genetic test, we strongly recommend that you connect your patient with an expert physician and genetic counselor. We will work with you to facilitate genetic testing and counseling for the patient.
For more information regarding RVCL, including ongoing research efforts, please submit the below contact form, and we will respond shortly.