Ocular Manifestations of the Sturge–Weber Syndrome

Abstract

Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient’s visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery.

Management of Glaucoma in an Adult Presentation of Sturge-Weber Syndrome

“…In our case, the patient was diagnosed with glaucoma in his early 20s and he was treated surgically with a valve implant. Since he had no clinical follow-up till this presentation, his left eye IOP returns to elevate, which indicates the failure of the surgery, like other studies that showed unfavorable outcomes in these patients [ 3 , 5 ].…”

Atlas of Nervous System Vascular Malformations: A Systematic Review

“…It is characterized by capillary–venous malformation of the brain, glaucoma, seizure, and neurological, ocular, and skin anomalies. Among the latter, port wine facial birthmarks stand out [ 62 , 63 , 64 , 65 , 66 ]. The etiology of this condition is attributed to somatic mutations that activate genes that encode heterodimeric G-protein chains, specifically the GNB2 gene, tha encodes the beta chain or the GNAQ and GNA11 genes that encode the alpha chain.…”

“…Although clinical data may be useful in this process, such data are not entirely decisive, given that at a clinical level there may be silent courses, as in the cases of CCT [ 58 ] and small CAs [ 31 ] or clinical manifestations that are closely similar, such headaches and seizures that are present in most of the different vascular malformation cases [ 17 , 20 , 32 , 33 , 49 , 50 , 51 , 60 , 62 , 68 ]. An example of a fairly useful clinical feature is port wine stain in the case of SWS [ 63 , 64 , 65 ]; however, this syndrome will only occur in 8% to 33% of the subjects with the skin mark [ 70 ]. In addition, SWS may be present without the presence of port wine stain.…”

Sturge Weber Syndrome Roach Type I: A case report

“…Sturge-Weber Syndrome (SWS), a rare congenital angiomatosis, simultaneously involving the skin, mucous membrane, brain, and/or eyes, gives rise to a neuro-cutaneous syndrome of variable clinical presentation, resulting from mutation of the GNAQ gene. 4,5 The clinical features are often categorized to type I, type II, and type III according to the Roach scale (Table 1). Type I is called the classical type and Type III is the rarest type.…”

“…1,2 Its overall prevalence is 1 in every 20-50,000 live births and from an embryologic point of view, it results from non-regression of the cephalic part of the primitive venous plexus around the fetal neural tube. 4,5 As depicted by Shirly et al, SWS occurs due to somatic activating mutation in the GNAQ on the 9 th chromosome. However, it develops sporadically and lacks a specific inheritance pattern.…”