7.5.8.6  Treatment

Glaucoma in SWS can initially be managed with medical therapy [180]. However, the majority of patients eventually require multiple trabeculectomies, combined trabeculotomy with trabeculectomy, or drainage implants [182, 183].

The management of the diffuse choroidal hemangioma varies with the extent of the tumor and secondary retinal detachment. Minimally elevated tumor may not require treatment. A small secondary retinal detachment can be treated with laser photocoagulation. More extensive retinal detachment had traditionally required vitrectomy, retinal detachment surgery, and laser treatment. However, recently, external beam radiotherapy or plaque radiotherapy has shown great success in preserving vision and preventing neovascular glaucoma [178, 179].

Patients with SWS require consistent and thorough monitoring for the development of seizures, headache, and stroke-like episodes. Intractable seizures may require surgical resection of the leptomeningeal angiomatosis with the underlying cerebral cortex in addition to medical management [187].

SWS patients benefit psychologically from the removal of the facial cutaneous vascular malformation, and laser therapy should begin soon after diagnosis for the best results. Without laser treatment, the lesion grows and typically darkens, developing vascular ectasias that promote nodularity and superficial blebbing. This development may lead to overgrowth of the soft tissue and bone beneath the lesion.

7.5.8.7  Social and Family Impact

Only limited information is known about the long-term and social aspects of patients with SWS. Patients with mild impairments are often able to easily adjust to living with SWS. However, when patients experience recurrent seizures, pervasive learning and behavioral problems, and disabling visual impairment, SWS is devastating. In a review of 52 adults with SWS, a correlation between the early onset of seizures and the likelihood of developmental delay and behavior problems was observed. Overall, about 40% were self-­ sufficient [188]. The effects of SWS on individual patients and families are difficult to predict; support

and education tailored to each family’s specific needs are key.

7.6  Wyburn-Mason Syndrome

7.6.1  Introduction

Wyburn–Mason syndrome (racemose hemangiomatosis) is a rare developmental disorder characterized by congenital nonhereditary AVM of the retina and brain.

7.6.2  Historical Context

In 1930, Yates and Paine described a patient with vascular malformations involving the brain and the retina. Bonnet et al. emphasized the association of retinal vascular malformation with ipsilateral cerebral AVMs and occasional facial nevi. In 1943, Wyburn–Mason studied this association in 27 patients and found that 81% of patients with retinal AVMs also have midbrain involvement [193].

7.6.3  Overview with Clinical Significance

The exact incidence of intracranial AVMs in patients with retinal AVMs is not known. In a review of cases published up to 1974, the incidence of intracranial AVMs in patients with retinal AVMs was 30% [194]. Conversely, only about 8% of cases with intracranial AVMs had retinal AVMs [194]. It is imperative that intracranial and orbital AVMs are excluded in patients with retinal AVM.

7.6.4  Classification

Retinal AVMs have been classified into three groups depending on the severity of vascular malformation: Group I has abnormal capillary plexus between the