Fig. 17.8 Sturge-Weber syndrome: diffuse choroidal hemangioma producing an exaggerated red reflex to the fundus (“tomato catsup fundus”)

The facial hemangioma can frequently involve the eyelids. Although it is usually unilateral, bilateral involvement occasionally occurs. Involvement of the upper eyelid has a high association with ipsilateral glaucoma. Prominent tortuous epibulbar blood vessels, in both the conjunctiva and episclera, are common findings. Glaucoma is more common in patients with SW syndrome than in the other ONCS. If the facial hemangioma involves both the first and second divisions of the trigeminal nerve, the incidence is 15% [28]. The glaucoma occurs unilaterally on the side of the facial hemangioma.

Fundus Manifestations

The only important abnormality of the uveal tract in patients with SW syndrome is the diffuse choroidal hemangioma. Patients with this tumor usually have a bright red pupillary reflex in the involved eye compared to the normal contralateral eye (“tomato catsup” fundus) (Fig. 17.8). The diffuse choroidal hemangioma is usually diagnosed when the affected patient is young (median age 8 years), either because the associated facial hemangioma prompts a fundus examination or because visual impairment occurs from hyperopic amblyopia or from a secondary retinal

detachment. The diffuse choroidal hemangioma appears as a red-orange thickening of the choroid, often with overlying subretinal fluid. The tumor is usually a few millimeters thicker than normal choroid. The details of fluorescein angiography, indocyanine green angiography, and ultrasonography, which can be helpful in the diagnosis, are discussed elsewhere [1, 3]. Other fundus manifestations of SW syndrome include retinal vascular tortuosity (see Fig. 17.8) and cupping of the optic disk if glaucoma is present.

Management

The management of the diffuse choroidal hemangioma can be difficult, and it varies with the extent of the tumor. It may range from observation only if it is asymptomatic to laser photocoagulation or retinal detachment surgery or irradiation, depending on the clinical circumstances [3].

Racemose Hemangiomatosis

(Wyburn-Mason Syndrome)

Definition

Racemose hemangioma of the midbrain and ipsilateral retina is called the Wyburn-Mason (WM) syndrome. Wyburn-Mason described this relationship in 1943 [31]. It consists of an abnormal congenital arteriovenous communication that can involve any combination of lesions in the retina, midbrain, and sometimes other areas including the orbit, mandible, maxilla, and pterygoid fossa [1, 3].

Genetics

This congenital condition does not appear to be familial and does not exhibit a hereditary pattern.

Fundus Manifestations

The classic ocular finding is the racemose (cirsoid) hemangioma of the retina [31, 32]. It is

Fig. 17.9 Wyburn-Mason syndrome: retinal racemose hemangioma

actually a retinal arteriovenous communication ranging from a very subtle asymptomatic lesion to a more extensive one that consists of intertwining blood vessels, sometimes forming a tumorlike vascular mass (Fig. 17.9). The lesion has been divided into three groups that are detailed in the literature [32].

The diagnosis of the retinal racemose hemangioma is made ophthalmoscopically, but fluorescein angiography can be of assistance. The affected artery fills rapidly with fluorescein, and the transit to the venous side is rapid due to the lack of intervening capillary network.

Management

In general, no ophthalmic treatment is necessary for patients with racemose hemangiomatosis. If the retinal lesion produces persistent vitreous hemorrhage that does not resolve, then the blood can be removed by vitrectomy.

Oculoneurocutaneous Cavernous

Hemangiomatosis

Definition

There are several systemic syndromes that are characterized by multiple cavernous hemangiomas or other vascular malformations. This

Fig. 17.10 Retinal cavernous hemangiomatosis. Cavernous hemangioma of the retina, showing characteristic “cluster of grapes” appearance

chapter includes only those with a combination of cavernous hemangiomas that involve the retina, skin, and CNS, called oculoneurocutaneous cavernous hemangiomatosis (ONCCH) [1, 33– 37]. The retinal and skin tumors are frequently asymptomatic, but the CNS hamartomas can sometimes produce clinical symptoms.

Genetics

This syndrome appears to have an autosomal dominant mode of inheritance [33–37]. A 7q locus has also been implicated in a large family with retinal cavernous hemangioma, choroidal cavernous hemangioma, and widespread CNS and cutaneous lesions [35]. Although the genetics are poorly understood, a mutation in the KRIT1 gene has been recognized in a family with retinal and CNS cavernous hemangiomas [37].

Fundus Manifestations

The only fundus manifestation of ONCCH is the retinal cavernous hemangioma. Ophthalmoscopically, the retinal lesion appears as a cluster of dark venous intraretinal aneurysms (Fig. 17.10).