PurposeTo explore the relationships between episcleral hemangioma distribution patterns and trabeculotomy prognosis in young Sturge–Weber syndrome (SWS) patients.MethodsSturge–Weber syndrome‐induced glaucoma patients less than 4 years of age who underwent trabeculotomy in our Ophthalmology Department from February 2016 to June 2017 were included. Every patient could be divided into simple episcleral vascular abnormal network (SEVAN) or multiple episcleral vascular abnormal network (MEVAN) groups according to their episcleral hemangioma patterns. The intraocular pressure (IOP) was recorded during follow‐up until the last visit.ResultsFifty eyes (forty‐six patients) of SWS were included. Mean age of surgery was 12.6 ± 15.1 months (range 1–47 months). Twenty‐six eyes were in the SEVAN group, while 24 eyes were in the MEVAN group. There were no significant differences between the two groups in demographic data before surgery (p > 0.05). IOPs at 12 months (p = 0.013) and 24 months (p = 0.002) were significantly different between the two groups. At the 24‐month follow‐up, the cumulative proportions of trabeculotomy success in the SEVAN and MEVAN groups were 89.7% and 36.0%, respectively. Patients with MEVAN and larger preoperative corneal diameter (per 0.5 mm) were more likely to experience failed trabeculotomy (hazards ratio [HR], 7.997 [95% CI, 1.640–38.996], p = 0.010; 1.853 [95% CI, 1.128–3.042], p = 0.015).ConclusionHemangiomas exhibited different distribution patterns between SEVAN and MEVAN. Trabeculotomy had a poorer prognosis in young SWS patients with MEVAN than in those with SEVAN. In addition to anterior chamber angle anomalies, vascular factors may contribute to the aetiology of SWS early‐onset glaucoma.

AimsTo determine the correspondence between GNAQ R183Q (c.548G＞A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis.MethodsEpiscleral tissues were obtained from 8 patients: SWS secondary glaucoma (n=5) and primary congenital glaucoma (PCG, n=3). Scleral tissues were obtained from 7 patients: SWS secondary glaucoma (n=2), PCG (n=1) and juvenile open-angle glaucoma (n=4). GNAQ R183Q mutation was detected in scleral tissue by droplet digital PCR. Tissue sections from SWS were examined by immunohistochemistry to determine the expression of p-ERK.ResultsThe GNAQ R183Q mutation was present in 100% of the SWS abnormal sclera. Five cases were SWS patient-derived episcleral tissue, and the mutant allelic frequencies range from 6.9% to 12.5%. The other two were deep scleral tissues and the mutant frequencies were 1.5% and 5.3%. No mutations in GNAQ R183 codon were found in the sclera of PCG and juvenile open-angle glaucoma. Increased expression of p-ERK and p-JNK was detected in the endothelial cells of SWS abnormal scleral blood vessels.ConclusionsGNAQ 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.