Sturge-Weber Syndrome is characterized by genetic mutations leading to neurological and ocular abnormalities.
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by somatic mutations in the GNAQ and GNA11 genes. These mutations affect blood vessel development, causing abnormalities in the brain, skin, and eyes from birth. The major features of SWS include a port-wine birthmark, leptomeningeal angiomas, and glaucoma. If SWS is suspected, MRI is recommended for further evaluation.
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Ganem et al. (2026) studied this question.
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