Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.
Wu Yue, Peng Cheng, Huang Lulu, Xu Li, Ding Xuming, Liu Yixin et al.
This study found the GNAQ R183Q mutation in all SWS glaucoma scleral tissue, suggesting it drives episcleral vessel abnormalities via ERK/JNK, offering diagnostic/therapeutic targets for SWS glaucoma.