The Sturge-Weber syndrome is a rare, sporadic neuro-oculocutaneous disorder, the clinical features of which may include facial nevus flammeus (port-wine staining), buphthalmos, epilepsy, mental retardation, and hemiplegia. The most frequent ocular manifestation of the syndrome is a diffuse choroidal hemangioma, in contrast to the well-circumscribed choroidal hemangiomas seen in patients without the syndrome. To our knowledge, we report the first case of a diffuse choroidal hemangioma in one eye and a circumscribed choroidal hemangioma in the fellow eye of a patient with Sturge-Weber syndrome.
A 3-year 8-month-old boy was first seen with a history of bilateral nevus flammeus involving the trigeminal regions since birth and was referred to our medical institution with a diagnosis of unilateral retinoblastoma. The child was noted by his parents to have an "in-turning right eye" since 2 months of age. There was neither history of eye pain nor photophobia. Visual acuity was 20/200 OD and 20/30 OS. A 4+ right afferent pupillary defect and a 60–prism diopter right exotropia were present. Slitlamp examination results were remarkable only for port-wine staining of the upper and lower eyelids bilaterally and leukocoria of the right pupil. Corneal diameters were within normal limits and there was no clinical evidence of buphthalmos. Findings from dilated funduscopic examination of the right eye revealed a diffuse choroidal hemangioma (with the classic "tomato ketchup" appearance), an overlying exudative total retinal detachment (Figure 1), retinal pigment epithelial mottling, and subretinal fibrosis. Results of dilated funduscopic examination of the left eye revealed a circumscribed choroidal hemangioma nasal to the optic disc without evidence of retinal complications (Figure 2). Examination under anesthesia showed intraocular pressures of 44 mm Hg OD and 18 mm Hg OS. The high intraocular pressure in the right eye was considered to be secondary to the diffuse choroidal hemangioma and resultant increased episcleral venous pressure. Echography revealed a diffuse choroidal lesion with high internal reflectivity and a total, open funnel–shaped retinal detachment in the right eye (Figure 3), and a circumscribed nasal choroidal lesion with high internal reflectivity in the left eye. Brain magnetic resonance imaging revealed a type I Arnold-Chiari malformation. Due to the long-standing detachment, the hemangioma in the right eye was not considered for treatment with external beam radiation. Serial follow-up evaluations (including examinations under anesthesia and a repeated brain magnetic resonance imaging) demonstrated no clinical, echographic, or neuroimaging changes throughout the 1-year follow-up interval.
Total exudative retinal detachment in right eye secondary to diffuse choroidal hemangioma. Note retinal vessels posterior to lens.
Wide-field intraoperative imaging of macula (left) and of nasal circumscribed choroidal hemangioma (right) in left eye. Arrows point to a nasal choroidal hemangioma.
Echography of the right eye. Left, B-scan documents diffuse extensive choroidal thickening with moderate homogeneity. Right, A-scan documents medium to high internal reflectivity consistent with diffuse choroidal hemangioma.
Bilateral nevus flammeus, intracranial calcifications, and diffuse choroidal hemangiomas have been reported previously in patients with the Sturge-Weber syndrome,1- 3 and there is one report of bilateral circumscribed choroidal hemangioma in an otherwise healthy woman.4 To our knowledge, we report the first patient with Sturge-Weber syndrome with a diffuse choroidal hemangioma in one eye and a circumscribed choroidal hemangioma in his fellow eye. The Sturge-Weber syndrome is classically associated with diffuse choroidal hemangiomas, the management of which is generally limited to treatment of associated complications such as glaucoma and retinal detachment. Our case demonstrates that patients with Sturge-Weber syndrome may also harbor circumscribed choroidal hemangiomas that warrant careful follow-up in order to detect promptly the need for treatment.
Reprints: Timothy G. Murray, MD, Bascom Palmer Eye Institute, 900 NW 17th St, Miami, FL 33136.
Scott IU, Alexandrakis G, Cordahi GJ, Murray TG. Diffuse and Circumscribed Choroidal Hemangiomas in a Patient With Sturge-Weber Syndrome. Arch Ophthalmol. 1999;117(3):406–407. doi: