Biomarker Development in Sturge-Weber Syndrome "Pilot"


Phase N/A Results N/A

Eligibility Criteria

Inclusion Criteria

1. Individuals with SWS and brain involvement (Aims 1-3): for the purposes of this study SWS brain involvement is defined as having shown on MRI imaging evidence of the typical vascular malformation which includes the following: leptomeningeal angioma, choroid plexus glomus, and associated venous angioma/malformation.
2. Individuals with SWS and eye involvement (Aim 4): for the purposes of this study SWS eye involvement is defined as individuals with a port-wine birthmark in the V1 dermatomal distribution
3. Able (or parents able) to provide informed consent
4. Able to cooperate with tests
5. Age 6 months to 21 years (Aims 1-3 only)

Exclusion Criteria

- Subjects unable to cooperate with the studies will be excluded.