Multimodal imaging application of Sturge-Weber syndrome complicated with glaucoma: a case report of non-surgical treatment in a 7-year-old boy

Abstract

Purpose

To report the multimodal imaging characteristics and successful non-surgical intraocular pressure (IOP) control with bimatoprost in a 7-year-old boy with Sturge-Weber syndrome (SWS)-related glaucoma and diffuse choroidal hemangioma (DCH).

Method

Case report with multimodal imaging including ultra-widefield fluorescein angiography, indocyanine green angiography, B-scan ultrasound, ultrasound biomicroscopy (UBM), and cranial MRI.

Results

A 7-year-old boy with facial port-wine stain (V1 distribution) presented with right ocular distension and IOP of 36 mmHg. Multimodal imaging confirmed DCH, exudative retinal detachment, and open angle. Initial triple therapy (brinzolamide, brimonidine, carteolol) failed to lower IOP. After switching to bimatoprost monotherapy (once daily), IOP decreased to 18 mmHg within 4 weeks and remained stable at 3-month follow-up. No surgical intervention was required.

Conclusion

In selected pediatric SWS patients with refractory glaucoma, bimatoprost may achieve excellent IOP control, avoiding surgical risks. Multimodal imaging is essential for accurate diagnosis and monitoring. This case challenges the traditional view that topical medications are ineffective in SWS-related glaucoma and highlights the potential of prostaglandin analogs as a first-line or early adjunctive therapy.

Introduction

Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous disorder with an incidence of approximately 1:50,000 [1]. SWS is primarily characterized by hemangiomas affecting the leptomeninges, the facial area innervated by the trigeminal nerve, and the ocular choroid, frequently involving the eye [2]. Diffuse choroidal hemangioma (DCH) is a benign vascular tumor originating from the choroidal vasculature. The prevalence of DCH in patients with SWS is 40–50% and is typically on the ipsilateral side as port-wine stain (PWS) [1, 3].

Glaucoma in SWS is often secondary to elevated episcleral venous pressure and trabecular meshwork dysgenesis. Traditional teaching holds that topical anti-glaucoma medications are usually ineffective in infantile SWS glaucoma, making surgery the first-line treatment [3]. However, surgical procedures such as trabeculectomy or glaucoma drainage devices have a reported failure rate of up to 40% in this population, and are associated with significant risks in young children [4, 5].

Herein, we report a 7-year-old boy with SWS-related glaucoma and DCH in whom multimodal imaging enabled accurate diagnosis, and medical management with bimatoprost achieved sustained IOP control after failure of conventional triple therapy. This case provides evidence that prostaglandin analogs may have a valuable role in pediatric SWS glaucoma, challenging the prevailing surgical-first paradigm.

Case report

Presentation and history

A 7-year-old boy was admitted to our hospital in February 2025 with a 2-week history of persistent right ocular distension. Since early childhood, a right-sided facial port-wine stain had been noted in the V1 distribution of the trigeminal nerve (Fig. 1), but no systematic ophthalmic or neurological evaluation had been performed. The patient had normal mental development, no history of epilepsy or seizures, no family history of glaucoma or similar conditions, and no prior trauma or surgery.

Fig. 1.

Right-sided facial port-wine stain in V1 distribution

Ophthalmic examination

On admission, best-corrected visual acuity was 6/30 in the right eye (RE) and 6/6 in the left eye (LE). Intraocular pressure (IOP) measured by Tonopen was 36 mmHg in the RE and 20 mmHg in the LE. Dilated fundus examination of the RE revealed optic disc cupping, venous tortuosity, and markedly dilated choroidal vessels (Fig. 2). The optic disc was edematous, obscuring the cup-to-disc ratio. An orange-red fundus appearance with diffuse choroidal thickening and exudative retinal detachment was present. The LE fundus was unremarkable.

Fig. 2.

Fundus photograph of the right eye showing optic disc cupping, venous tortuosity, and dilated choroidal vessels

Automated perimetry showed a superotemporal visual field defect in the RE; the LE field was normal (Fig. 3). B-scan ultrasonography of the RE demonstrated moderate-to-low vitreous opacities, diffuse irregular thickening of the posterior wall suggestive of DCH, and a shallow exudative retinal detachment (Fig. 4). Spectral-domain optical coherence tomography (OCT) and Optical Coherence Tomography Angiography (OCTA) of the RE showed vitreous opacities, undulation of the retinal pigment epithelium with subretinal fluid, neuroepithelial detachment, and optic disc edema. The macula and optic disc of the LE were within normal limits. (Fig. 5a\b).

Fig. 3.

Visual field of the right eye showing superotemporal defect ; left eye normal

Fig. 4.

B-scan ultrasound of the right eye: vitreous opacities, diffuse choroidal thickening, and shallow retinal detachment

Fig. 5.

a: Spectral-domain OCT of the right eye: subretinal fluid, neuroepithelial detachment, and optic disc edema.b: Optical Coherence Tomography Angiography (OCTA) of the right eye: The B-scan flow overlay demonstrates active perfusion within the thickened neurosensory retina, with an underlying area of flow void corresponding to the neuroepithelial detachment and subretinal fluid. No pathological neovascularization is detected

Ultra-widefield fluorescein angiography (UWFFA) revealed marked venous tortuosity and dilation, with the choroidal hemangioma showing “lake-like” hyperfluorescence and late leakage (Fig. 6). Indocyanine green angiography confirmed the diffuse nature of the choroidal vascular malformation. Ultrasound biomicroscopy (UBM) showed a wide open circumferential angle in the RE, a flat iris configuration, and slightly reduced echo from the nasal ciliary body (Fig. 7). No angle closure or peripheral anterior synechiae were observed.Non-contrast cranial CT revealed several small patches/nodules of slightly increased density in the right parietal cortex, of uncertain significance. Subsequent contrast-enhanced brain magnetic resonance imaging (MRI) showed no definite leptomeningeal hemangioma or intracranial calcifications, ruling out type I SWS with brain involvement.

Fig. 6.

Ultra-widefield fluorescein angiography: venous tortuosity and “lake-like” hyperfluorescence of choroidal hemangioma with late leakage

Fig. 7.

Ultrasound biomicroscopy (UBM): wide open angle, flat iris, and slightly reduced ciliary body echo nasally

Diagnosis and treatment

Based on the clinical and imaging findings, the patient was diagnosed with SWS (type II, without brain involvement) with secondary glaucoma and ipsilateral DCH [2, 6].

Before referral, the patient had been treated with a combination of brinzolamide 1% three times daily, brimonidine 0.2% three times daily, and carteolol 2% twice daily for 2 weeks. Despite good adherence, IOP remained persistently elevated at 34–36 mmHg, and ocular distension did not improve. After obtaining informed consent from the parents, the triple therapy was discontinued and bimatoprost 0.03% ophthalmic solution was initiated once daily in the RE. At 2 weeks, IOP decreased to 22 mmHg; at 4 weeks, IOP was 18 mmHg, and ocular distension had resolved. No adverse effects (conjunctival hyperemia, eyelash growth, or iris pigmentation) were observed during the 3-month follow-up. The patient was continued on bimatoprost monotherapy with regular monitoring of IOP, visual field, and OCTA every 3 months. A treatment timeline illustrating medication changes and IOP response is provided as Fig. 8.

Fig. 8.

Treatment timeline showing IOP response after switching from triple therapy to bimatoprost monotherapy.The line graph depicts the transition from failed triple medication therapy to successful bimatoprost monotherapy. The red dashed line represents the target IOP (21 mmHg). Following the management switch at week 2, the IOP decreased significantly from 36 mmHg to 18 mmHg and remained stable at the 6-month follow-up

Discussion

The pathophysiological mechanism of SWS is linked to somatic mosaic mutations in GNAQ or GNA11 (e.g., p.R183Q), leading to endothelial proliferation and venous malformations [7]. In children, DCH often presents with secondary retinal detachment and choroidal thickening, causing visual impairment [8]. Diagnostic challenges include overlooked cutaneous signs in darkly pigmented individuals or isolated DCH without facial PWS [9, 10]. Multimodal imaging, including OCTA and B-scan, can monitor choroidal thickness changes and subretinal fluid accumulation. MRI is essential to exclude brain involvement.

In the present case, multimodal imaging played a crucial role in guiding non-surgical management. UWFFA/ICGA confirmed DCH, OCTA quantified subretinal fluid and optic disc edema, and UBM ruled out angle closure. Cranial MRI excluded leptomeningeal involvement, reducing the urgency for neurosurgical intervention. This comprehensive imaging approach allowed us to confidently pursue medical management [11, 12].

The use of bimatoprost, a prostaglandin FP receptor agonist that increases uveoscleral outflow of aqueous humor [13]. This mechanism is particularly advantageous in SWS, where elevated episcleral venous pressure and trabecular meshwork dysgenesis impede conventional outflow. By relaxing the ciliary muscle and enhancing uveoscleral drainage, bimatoprost bypasses the obstructed pathways [3]. In our patient, bimatoprost reduced IOP by 50% (from 36 to 18 mmHg), a response that exceeded expectations given the reported refractoriness of SWS glaucoma to medical therapy.

Surgical interventions for SWS glaucoma include trabeculectomy, glaucoma drainage devices, cyclodestructive proceduresand and newer micro-invasive procedures like the PreserFlo microshunt [14]. However, a recent study reported a 30% failure rate for filtration surgery in this population, and pediatric surgeries carry risks of infection, hypotony, and need for reoperation.Non-surgical management, when effective, avoids these risks and allows home-based treatment [15]. Our case adds to the limited literature suggesting that prostaglandin analogs may be underutilized in pediatric SWS glaucoma.

Currently, the clinical management of glaucoma secondary to SWS remains highly challenging without a universally standardized guideline.Medical therapy is typically initiated as the first-line defense to control IOP.Topical medications are traditionally considered less effective, especially in infantile-onset cases, but prostaglandin analogs (e.g., bimatoprost) may be considered as first-line or early adjunctive therapy in older children with open angles, as in our case.When medical therapy fails to control IOP or disease progression occurs, trabeculectomy remains a common surgical option, particularly when combined with anti-metabolites.Indications for surgery include IOP consistently above target despite maximally tolerated medical therapy, progressive optic disc cupping, or visual field deterioration.In cases where trabeculectomy fails or is deemed high-risk (e.g., previous conjunctival scarring, marked episcleral venous engorgement), glaucoma drainage devices (e.g., Ahmed valve) or cyclophotocoagulation are alternative options.More recently, minimally invasive glaucoma surgeries such as the PreserFlo microshunt have shown promise in selected pediatric SWS patients [14].

This is one of the few reports documenting a clear IOP response to bimatoprost after failure of multiple other topical agents in a child with SWS. The distinct features are: (1) failure of triple therapy (brinzolamide/brimonidine/carteolol) followed by successful monotherapy with bimatoprost; (2) detailed multimodal imaging confirming open-angle anatomy and DCH; (3) absence of brain involvement, making non-surgical management safer; and (4) a structured follow-up protocol to detect asymptomatic progression.

We propose that in pediatric SWS patients with secondary glaucoma and open angles, a trial of bimatoprost should be considered before proceeding to surgery. Close monitoring (IOP every 3 months, visual field and OCTA every 6–12 months) is mandatory. If IOP exceeds 21 mmHg or cup-to-disc ratio increases by > 0.1, medication adjustment or surgical referral should be considered. Annual brain MRI is recommended to detect late-onset leptomeningeal hemangioma or calcifications.

Limitations

This is a single case report with short-term follow-up (3 months). Longer follow-up is needed to assess durability of response and potential side effects.

Conclusions

This case highlights that bimatoprost can effectively control IOP in pediatric SWS-related glaucoma after failure of conventional triple therapy. Multimodal imaging provides the diagnostic foundation for safe non-surgical management. We suggest that prostaglandin analogs, particularly bimatoprost, be considered as a first-line or early adjunctive therapy in selected children with SWS glaucoma, potentially reducing the need for surgery.

Abbreviations

DCH

Diffuse choroidal hemangioma

IOP

Intraocular pressure

LE

Left eye

MRI

Magnetic resonance imaging

OCT

Optical coherence tomography

OCTA

Optical coherence tomography angiography

PWS

Port-wine stain

RE

Right eye

SWS

Sturge–Weber syndrome

UBM

Ultrasound biomicroscopy

UWFFA

Ultra-widefield fluorescein angiography

Author contributions

TY Chen and YX Geng contributed equally to this work and share first authorship. TY Chen and YX Geng were involved in the clinical management of the patient, collected the clinical data, and drafted the manuscript. DY Liu performed the ophthalmic examinations, interpreted the multimodal imaging findings, and critically revised the manuscript for important intellectual content. DY Liu is the corresponding author and supervised the overall project. All authors read and approved the final manuscript.

Funding

This work was supported by the Medical Science Research Project of Hebei Province(Grant No. 20250478).

Data availability

All data generated or analyzed during this study are included in this published article.

Declarations

Ethics approval and consent to participate

This study was conducted in accordance with the Declaration of Helsinki. Written informed consent was obtained from the patient’s legal guardian for participation in this study.

Consent for publication

Written informed consent for publication of the clinical details and clinical images was obtained from the patient‘s parents (legal guardians). A copy of the consent form is available for review by the Editor of this journal.

Competing interests

The authors declare no competing interests.