Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome: Correlation between Clinical Features, Imaging, and Treatment Response

To report intraocular pressure (IOP) reduction after selective and partial destruction of diffuse choroidal haemangioma (DCH) by transpupillary thermotherapy (TTT) using an 810 nm infrared diode laser in two patients with Sturge-Weber syndrome (SWS) having late-onset juvenile glaucoma (LOJG). An interventional small case series. Laser spots (diameter, 1 mm) were applied to the tumour surface located outside the posterior pole. Energy level (600-1700 mW) and exposure time (1-4 seconds) were increased stepwise until the tumour exhibited a greyish discoloration. The treatment was split into 2-4 sessions. Before TTT, both patients had uncontrolled LOJG with an IOP of 23 mmHg (Case 1) and 45 mmHg (Case 2) in spite of topical medications. In both cases, TTT led to normalization of IOP to 15 mmHg and 24 mmHg, respectively, and stopped the progression of LOJG during a follow-up period of 6 years (Case 1) and 1 year (Case 2). Visual loss or other complications were not observed. Our study highlights the close link that exists between LOJG and DCH in SWS. A single treatment modality such as TTT may both reduce IOP in LOJG and help to prevent exudative retinal detachment in DCH. We believe that TTT is a good therapeutic option for SWS patients who have both DCH and LOJG.

Introduction: Sturge-Weber syndrome, a congenital vascular disorder, is associated with diffuse choroidal hemangiomas in which the current mainstay of treatment is radiation therapy, including external beam radiation therapy (EBRT). The purpose of this case report was to present a novel combination of treatments for diffuse choroidal hemangioma. Case Presentation: A 37-year-old man with a history of Sturge-Weber-associated glaucoma presented with an acute-onset decrease in vision in the right eye. Best-corrected visual acuity (BCVA) at the presentation was 20/400 in the right eye. Examination revealed a total macula-off, bullous, folded exudative retinal detachment and findings consistent with diffuse choroidal hemangioma. The patient was treated with a single injection of intravitreal anti-vascular endothelial growth factor (anti-VEGF) agent bevacizumab and 10 fractions of EBRT of the right eye. Follow-up examination at 17 months demonstrated complete resolution of subretinal fluid and no evidence of choroidal elevation on B-scan. Final BCVA in the right eye was 20/1,000. Conclusion: This case uses simultaneous treatment with EBRT and bevacizumab in the treatment of diffuse choroidal hemangioma and associated exudative retinal detachment. Clinicians may use anti-VEGF agents early in the course of the disease in determining whether they may assist in preventing visual decline.

Background: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge–Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in GNAQ at codon R183. Mutations in GNAQ or GNA11 result in dysregulation of the mitogen-activated protein kinase, which influences gene transcription and results in cellular proliferation. DCH may not always be readily detected on routine ophthalmological examination, consequently diagnosis and multidisciplinary referral are often delayed. Purpose: A literature search was performed through April 2020 without a lower date limit. This review will summarize the pathogenesis, diagnosis and management of DCH. Discussion: Multimodal imaging facilitates early detection of the condition. In particular, enhanced depth imaging spectral domain optical coherence tomography enables non-invasive, high-resolution visualization of the choroid to even detect mild choroidal thickening. Management of symptomatic DCH is generally difficult and results in poor visual outcome, thus, treatment is generally unwarranted, unless the hemangioma complicated by serous retinal detachment. The main treatment method is radiation therapy with external beam radiation therapy, proton beam therapy, plaque brachytherapy, and gamma knife surgery where low doses of radiation entail fewer complications. One method of alternative management is with photodynamic therapy that, although less invasive with a lower rate of complications, is not always feasible or effective in cases with extensive exudative retinal detachment. Conclusions: Multimodal ophthalmological imaging facilitates diagnosis of DCH and lifelong surveillance is essential in patients.

Choroidal vascular tumors; it may present as circumscribed and diffuse choroidal hemangiomas and rarely choroidal hemangiopericytoma and phacomatosis pigmentovascularis. Choroidal hemangiomas are benign vascular hamartomatous tumors that occur in two forms: circumscribed and diffuse. The circumscribed form is typically an isolated finding without systemic associations, while the diffuse form generally occurs in association with Sturge–Weber syndrome. Circumscribed choroidal hemangiomas are generally seen as well-circumscribed, round or oval, elevating dome-shaped orange or red masses located posterior to the equator in the fundus, whereas diffuse choroidal hemangiomas have a diffuse red-orange color appearance (tomatoketchup). Although the diagnosis of choroidal hemangioma is better investigated by means of multimodal imaging, indocyanine green angiography and ultrasonography are the most important tests in the differential diagnosis. For circumscribed choroidal hemangiomas with exudative retinal detachment or cystoid macular edema, a variety of treatment modalities are available. Symptomatic patients can be treated with oral propranolol, photodynamic therapy, transpupillary thermotherapy, plaque radiotherapy, external radiotherapy or intravitreal anti-vascular endothelial growth factors.In this review, the pathogenesis, clinical features and treatment methods in choroidal vascular tumors will be discussed.

To evaluate Ruthenium-106 plaque radiotherapy in the treatment of diffuse choroidal hemangioma (DCH) associated with serous retinal detachment. A retrospective analysis was performed in five patients treated for DCH associated with Sturge-Weber syndrome (SWS). In all cases, Ruthenium-106 plaque therapy with a target apex dose of 30.98-47.36 Gy (mean:38.9 Gy) was performed. The outcomes of treatment were regression of DCH, assessed by B-scan ultrasonography; resolution of serous retinal detachment, measured by B-scan ultrasonography and optical coherence tomography (OCT); changes in best corrected visual acuity (BCVA) and the development of radiation-related complications. All investigations were repeated 3 months after treatment and then at six monthly intervals within 22-122 months (mean: 62 months) of follow-up. The initial BCVA of the affected eyes ranged from counting fingers at 1 m to 0.1 by the Snellen chart. Mean tumor basal diameter was 16.7 mm (range: 13.8 to 18.5 mm) and mean tumor thickness was 4.4 mm (range: 2.4 to 5.8 mm). Tumor regression was found in all cases with the prompt resolution of subretinal fluid. In three patients, BCVA improved and in two it remained stable. During the follow-up period, in one case secondary glaucoma was treated with transscleral cyclophotocoagulation, and in another case, recurrence of the hemangioma was treated with repeated Ruthenium-106 plaque irradiation and transpupillary therapy. Ruthenium-106 plaque radiotherapy is an effective and safe treatment option for DCH associated with SWS. Brachytherapy led to tumor regression and resolution of serous retinal detachments, and visual stabilization was achieved in most cases.

Visual rehabilitation in a child with diffuse choroidal hemangioma by using aggressive amblyopia therapy with low-dose external beam irradiation

Phakomatosis pigmentovascularis type IIIb: A case associated with Sturge-Weber and Klippel-Trenaunay syndromes

Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal hemangiomas, and ocular manifestations such as glaucoma and diffuse choroidal hemangioma (DCH). DCH is a benign vascular lesion characteristically seen in up to 50% of patients affected with SWS. Diffuse choroidal hemangioma can cause refractive error, foveal distortion, and exudative retinal detachment and contribute to vision loss. We report a case of a young male with SWS and a unilateral DCH with characteristic imaging features.

To report the treatment outcome of photodynamic therapy with verteporfin (PDT) for exudative retinal detachment associated with diffuse choroidal haemangioma in Sturge-Weber syndrome. An interventional case report of a 12-year-old girl with Sturge-Weber syndrome who developed an exudative retinal detachment (visual acuity 20/400) that was treated with PDT under general anaesthesia. PDT was performed according to the standard (macular degeneration) protocol, using three nonoverlapping spots of 4,000 microm. Subretinal fluid resolved completely over a period of 5 months and visual acuity increased to 20/50. No side effects of the PDT treatment were encountered during 9 months' follow-up. In our patient PDT with verteporfin effectively resolved the exudative retinal detachment associated with a diffuse choroidal haemangioma. Resolution of subretinal fluid occurred over several months without retreatment. We noted no side effects of the combination PDT and general anaesthesia, nor did we encounter ocular side effects of the treatment.

Purpose. To report the treatment outcome of photodynamic therapy with verteporfin (PDT) for exudative retinal detachment (RD) associated with diffuse choroidal hemangioma in Sturge-Weber syndrome (SWS). Methods. An interventional case report of a 10-year-old girl with SWS who developed an exudative RD (visual acuity hand motions) that was treated with PDT. She was treated with a first session of multispot PDT. Posteriorly, a choroidotomy for drainage of subretinal fluid was created, combined with an intravitreal injection of gas (SF6) and cryoapplication. Finally, a second session of PDT was applied. Results. Subretinal fluid resolved over a period of one year and visual acuity increased to 20/125. Conclusions. PDT is an effective therapeutic option for exudative RD associated with diffuse choroidal hemangioma.

Diffuse choroidal hemangioma associated with exudative retinal detachment in a Sturge–Weber syndrome case: Photodynamic therapy and intravitreous bevacizumab

To evaluate the efficacy of ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma (DCH) in Sturge-Weber syndrome (SWS). A total of 8 patients with DCH in SWS managed with plaque brachytherapy were retrospectively included. Patients were treated with ruthenium-106 plaque therapy (median apex dose: 83 Gy) at the thickest tumor region. On follow-up, we recorded the tumor thickness, the best-corrected visual acuity (BCVA), subretinal fluid (SRF) status, and complications following treatment. At a median follow-up of 43mo, tumor regression was observed in all cases, with a complete resolution of SRF and reduction in tumor-thickness. No radiation complications were recorded during the follow up time. Ruthenium-106 plaque therapy to the thickest portion of the tumor seems to be a useful treatment in patients with DCH in SWS.

Photodynamic Therapy of Choroidal Hemangioma in Sturge-Weber Syndrome, with a Review of Treatments for Diffuse and Circumscribed Choroidal Hemangiomas

Sturge–Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%–70%. Glaucoma is related to anterior chamber malformations, high episcleral venous pressure (EVP), and changes in ocular hemodynamics. Glaucoma can be diagnosed at birth, but the disease can also develop during childhood and in adults. The management of glaucoma in Sturge–Weber syndrome patients is particularly challenging because of early onset, frequently associated severe visual field impairment at the time of diagnosis, and unresponsiveness to standard treatment. Several surgical approaches have been proposed, but long-term prognosis for both intraocular pressure control and visual function remains unsatisfactory in these patients. Choroidal hemangiomas may also lead to visual impairment thorough exudative retinal detachment and macular edema. Treatment of exudative hemangioma complications is aimed at destructing the tumor or decreasing tumor leakage.

Diffuse choroidal hemangiomas associated with Sturge-Weber syndrome (SWS) are classically treated with external beam radiotherapy (EBR), but there are a few reports usually of single cases indicating the usefulness of plaque therapy. We present our observations on two cases of diffuse choroidal hemangiomas with exudative retinal detachment associated with SWS treated with Ruthenium-106 plaque therapy. Outcomes included best-corrected visual acuity (BCVA) and regression in tumor thickness measured by ultrasonography. The initial BCVA of the affected eyes was counting fingers at 1 meter and light projection. Pretreatment tumors thickness was 3.5 mm and 4.7 mm. In a follow-up period of 18–24 months, significant reduction in thickness of choroidal hemangiomas up to 1.2 mm and 1.4 mm with prompt resolution of exudative retinal detachment was observed. BCVA achieved 20/200 and 20/400, respectively. The findings in this paper indicate that Ruthenium-106 plaque therapy is effective in treatment of diffuse choroidal hemangiomas associated with SWS.