Unilateral Glaucoma Associated with Conjunctival Angioma and Choroidal Thickening without Facial Angioma.

We report a case of a suspected Sturge-Weber syndrome variant diagnosed at the age of 58 with the help of enhanced depth imaging spectral-domain ocular coherence tomography (EDI-SDOCT). A 58-year-old female with unilateral glaucoma was suspected to have choroidal vascular lesion, conjunctival angioma, and no facial port-wine stain who presented to the clinic with bleb dysesthesia many years after trabeculectomy. EDI-SDOCT was performed and revealed markedly increased choroidal thickness in the affected eye. EDI-SDOCT may be helpful in diagnosing Sturge-Weber variants without facial involvement and may aid in the investigation of the pathogenesis of this disease.

INTRODUCTION

Sturge–Weber syndrome is a rare condition caused by a sporadic mutation resulting in the malformations of cephalic microvasculature. Classically, it manifests with a facial port-wine stain, leptomeningeal angiomas, and glaucoma. Additional ocular findings include conjunctival, episcleral, choroidal, and retinal hemangiomas.

We describe a patient with unilateral glaucoma, ectatic conjunctival and episcleral vessels, and markedly increased choroidal thickness, but no facial port-wine stain or intracranial lesions. Her glaucoma had been treated surgically, but the similarity to Sturge–Weber syndrome had not been previously noted by her physicians. The findings from enhanced depth imaging spectral-domain ocular coherence tomography (EDI-SDOCT) made it likely that she is a rare example of Sturge–Weber syndrome without facial involvement.

CASE REPORT

A 58-year-old Caucasian female had been diagnosed with unilateral glaucoma at the age of 22 during a routine employment of physical examination. Findings at that time were a red left eye and intraocular pressure of 44 mmHg. She then underwent laser trabeculoplasty and was stable on medical therapy for several years. Magnetic resonance imaging performed during this time period did not detect carotid-cavernous fistula, orbital, or intracranial lesions. At the age of 40, she required trabeculectomy surgery due to persistently elevated intraocular pressure. The fellow eye was normal.

She presented to a glaucoma subspecialty clinic at the age of 58 due to bleb dysesthesia. Best corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. There were no vascular lesions or discoloration of the facial skin, and the patient neither wore makeup nor had treatment of the facial skin. There was a left afferent pupillary defect. Intraocular pressure was 15 mmHg (right) and 8 mmHg (left). Slit lamp examination revealed a large and thin-walled avascular bleb overhanging the limbus, with mild superficial punctate keratopathy. The blood vessels of the conjunctiva and episclera of the left eye were dilated and tortuous [Figure 1]. The right eye's conjunctival and episcleral vessels were unremarkable. The cornea, anterior chamber, iris, and lens were otherwise unremarkable. Both angles were open with no blood in Schlemm's canal or neovascularization of the angle. Cup-to-disc ratio was 0.4 in the right eye and 0.9 in the left eye, with confirmation of severe unilateral optic nerve damage on SDOCT imaging. Dilated fundus examination revealed a subtle red color of the choroid in the left eye compared to the right, consistent with a possible choroidal vascular lesion [Figure 2]. Automated perimetry of the right eye was within normal limits, while the left had advanced damage consistent with glaucoma. EDI-SDOCT showed that the posterior 6 mm of the choroid had an average thickness in the left eye of 733 microns compared to the 329 microns in the right eye using the method previously described by Maul et al. [Figure 2].1 The patient underwent uncomplicated bleb revision surgery with full relief of symptoms and continued good pressure control.

Figure 1

Slit lamp photograph showing dilated conjunctival and episcleral vessels

Figure 2

Fundus photographs of both eyes with corresponding enhanced depth imaging spectral-domain ocular coherence tomography below

DISCUSSION

Sturge–Weber syndrome, one of the phakomatoses, is characterized by port-wine stains of the face, unilateral glaucoma, seizures, mental retardation, and leptomeningeal angioma. Typically, only one side of the head is affected, and vascular malformations of the conjunctiva, episclera, and choroid are present.2 Duke-Elder's textbook notes that “incomplete forms constitute the majority of cases of the syndrome. Any one of the three main lesions [port-wine stain, meningeal angioma, glaucoma] may occur alone but a facial nevus of some extent is the rule and the syndrome should be reserved for the occurrence in combination of a facial and meningeal angioma.”3

More recently, however, Di Rocco and Tamburrini4 noted in a review article that subdivisions of Sturge-Weber syndrome exist, in which a facial nevus may be completely absent. Furthermore, Amirikia et al.5 presented a case report describing a Sturge-Weber patient with bilateral diffuse choroidal hemangiomas, but only a unilateral facial nevus. Our patient appears to represent such a case, a rare variant of Sturge–Weber syndrome, without facial skin involvement.

Recently, SDOCT has permitted a detailed measurement of choroidal thickness, which in this case supplemented our clinical impression of a subtle redder hue to the fundus in the left eye by showing that the choroid was thicker than the fellow eye and far outside the normal range. While the choroid is known to be thicker when intraocular pressure is lower,6 the expected difference related to the pressure is much smaller than the difference between eyes in this patient. Arora et al.7 demonstrated that Sturge–Weber patients have markedly increased choroidal thickness on the affected side, as we found in this case.

Another secondary glaucoma associated with prominent episcleral vessels was reported by Radius and Maumenee8 and others. However, the vessels in those eyes that exhibit abnormality are the large arteries and veins of the conjunctiva and episclera, while ectatic capillaries are not seen. No facial or choroidal angiomas are present, and adjunctive testing is normal, including catheter angiography, fluorescein angiography, neuroimaging, and orbital venography.9 Further, quantitative imaging of choroidal thickness in patients with Sturge–Weber, Klippel–Trenaunay–Weber, Radius–Maumenee, and other similar syndromes may yield important clinical clues to diagnosis and further data on pathogenesis.

Financial support and sponsorship

This study was supported with the NIH Career Development Award (K23EY025014-01A1).

Conflicts of interest

There are no conflicts of interest.