Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome

Conclusions GNAQ R183Q occurred in all abnormal scleral tissue of SWS secondary glaucoma. Increased expression of p-ERK and p-JNK in endothelial cells of blood vessels was detected in the abnormal scleral tissue. This study suggests GNAQ R183Q may regulate episcleral vessels of patients with SWS through abnormal activation of ERK and JNK, providing new genetic evidence of pathogenesis of glaucoma in SWS, and the dysplasia of scleral tissue in anterior segment may be used as an early diagnostic method or treatment targets to prevent the development and progression of glaucoma in patients with SWS.
Source: British Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Open access Original articles - Clinical science Source Type: research