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Woman referred for progressing unilateral glaucoma
Mild temporal chemosis, dilated, tortuous conjunctival and episcleral vessels in a corkscrew pattern, and prominent iris vessels were seen in the right eye.
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A 42-year-old woman was referred by her primary ophthalmologist for management of progressing glaucoma. She had glaucoma in the right eye for 8 years. Until recently, IOP in her right eye had been adequately controlled by topical aqueous suppressants. At the time of presentation, she complained of chronic redness in her right eye and denied ocular pain or change in vision.
Medical history was significant for chronic migraines and hypercholesterolemia. Ocular history included retinal detachment surgery in the right eye 12 years prior. Family and social histories were noncontributory. Ocular medications included timolol twice daily in the right eye, brimonidine twice daily in the right eye and dorzolamide every night in the right eye. Systemic medications included propranolol for migraine prophylaxis, Lipitor and multivitamins. Review of systems was unremarkable.
 Slit lamp photograph of the right eye revealing dilated and tortuous conjunctival and episcleral vessels in a corkscrew pattern, as well as prominent iris vessels. |
Examination
The patient’s best corrected visual acuity was 20/70 in the right eye and 20/30 in the left eye. Manifest refraction demonstrated hyperopia with mild astigmatism in the right eye and myopia with mild astigmatism in the left eye (right eye: +5.00 –0.75 3 × 113; left eye: –3.00 –0.50 × 70). Her pupils were 4 mm in the right eye and 6 mm in the left eye, both round, reactive to light and without afferent pupillary defects. Extraocular movements and confrontational fields were normal. IOP measured 30 mm Hg in the right eye and 13 mm Hg in the left eye by Goldmann applanation tonometry.
Slit lamp examination of the right eye revealed mild temporal chemosis, dilated, tortuous conjunctival and episcleral vessels in a corkscrew pattern, and prominent iris vessels (Figure 1). The cornea, anterior chamber, lens and vitreous in the right eye were unremarkable. The anterior segment of the left eye was within normal limits. Gonioscopy of the right eye revealed an open angle with pigmented trabecular meshwork, anomalous vessels and peripheral anterior synechiae at the 4 and 9 to 11 o’clock positions. Gonioscopy of the left eye was unremarkable. Examination of the right optic disc demonstrated a diffuse enlargement of the cup with pallor and thinning of the inferotemporal rim (Figure 2a). The left optic disc appeared normal (Figure 2b). The fundus and choroid in the right eye appeared thicker with an intense deep-red color when compared with the left. Humphrey visual fields testing demonstrated a superior arcuate scotoma, superior and inferior nasal steps, and a paracentral scotoma in the right eye (Figure 3a) and no field defects in the left (Figure 3b).
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Images: Yoon SJ, Cotran PR |
What is your diagnosis?
Progressing glaucoma
 Shazia Ahmed |  My Hanh T. Nguyen |
A diagnosis of open-angle glaucoma due to elevated episcleral venous pressure was made in the right eye. The relationship between episcleral venous pressure and IOP is defined by the Goldmann equation [IOP = (rate of aqueous formation / facility of outflow) + episcleral venous pressure]. Normal episcleral venous pressure is approximately 9 ± 1.5 mm Hg. The causes of elevated episcleral venous pressure can be secondary to venous obstruction or arteriovenous abnormalities. Causes of venous obstruction include cavernous sinus thrombosis, thyroid ophthalmopathy, retrobulbar tumors, jugular venous obstruction, congestive heart failure and superior vena cava syndrome. Causes of arteriovenous fistulas include carotid-cavernous fistulas, orbital varices, dural cavernous sinus fistulas and Sturge-Weber syndrome. In patients with elevated episcleral venous pressure, a thorough diagnostic evaluation with or without neuro-imaging should be performed based on the medical history, duration of the problem and presence of other associated abnormalities.
Diagnosis
External exam revealed an elevated and thickened vascular malformation with raised nodules in cranial nerve (CN) V1 and V2 dermatomal distribution on the right side of the patient’s face (Figure 4). The patient reported having this facial appearance since birth. A diagnosis of Sturge-Weber syndrome was made.
Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a sporadic, neurocutaneous phakomatosis often associated with glaucoma. The complete syndrome is characterized by facial hemangiomas, leptomeningeal hemangiomas and ocular hemangiomas. Incomplete forms are often seen and have been classified by their clinical manifestations.
Discussion
The association of a facial angioma with glaucoma was first described by Schirmer in 1860. Sturge described a patient with port-wine stains, buphthalmos and seizures in 1879, and Weber described the radiographic features in 1922. The pathogenesis is thought to be failure of the primitive cephalic venous plexus to regress during the first trimester. The proximity of the ectoderm (destined to become the facial skin) to the neural tube (destined to form the parietooccipital regions of the brain) may explain the association of the facial port-wine stain and leptomeningeal angiomas. It is a rare syndrome. The frequency is estimated as one in 50,000 live births. It is thought to be due to a sporadic mutation, making it unique among the four major neurocutaneous syndromes. There is no known sex or racial predilection for SWS.
Clinical manifestations can be divided into cutaneous, neurologic and ocular signs related to the respective angiomas. The nevus flammeus (ie, port-wine stain) is a pink, macular stain present at birth. With age, the lesion may darken, as well as become thicker and more nodular. These lesions tend to be unilateral with a sharp, midline demarcation; however, bilateral lesions have been described. The port-wine stain in SWS has been classically defined by the dermatomal distribution of the trigeminal nerve involved. Some authors suggest that the syndrome can only be diagnosed when CN V1 or CN V1 and V2 are involved. The overall risk of SWS with any facial cutaneous vascular malformation is 8%.
 External photograph of the patient showing nevus flammeus (port-wine stain). She has a thickened, nodular, well-demarcated vascular malformation in cranial nerve V1 and V2 dermatomal distribution that respects the midline. |
Neurological manifestations include ipsilateral leptomeningeal angiomas that are associated with seizures in 75% to 90% of patients. Seizures range from contralateral focal seizures to grand mal seizures. Earlier onset seizures correlate with poorer prognosis and epilepsy control. Focal neurologic defects, such as contralateral hemiparesis, hemianopsia and stroke-like episodes, are present in 25% to 56% of patients. Variable degrees of mental deficiency are present in 50% to 60% of patients, and headaches or migraines occur in 77% of patients. Neuro-imaging of these patients demonstrates cortical atrophy and calcifications with a “tram-track sign” on skull radiographs and gyriform pattern of calcification and leptomeningeal enhancement on CT or MRI.
Ocular manifestations include episcleral angiomas and dilated, tortuous conjunctival and episcleral vessels. A “corkscrew” pattern is often seen. Diffuse choroidal hemangiomas resulting in the classic “tomato ketchup” appearance of the fundus are present in 40% to 71% of patients. Gonioscopy may reveal anomalous scleral vessels in the angle, pigmented trabecular meshwork and blood in Schlemm’s canal. Heterochromia of the iris, buphthalmos secondary to infantile glaucoma, and retinal degeneration or detachment secondary to exudation of the choroidal hemangioma may also be noted.
Glaucoma in Sturge-Weber syndrome has been reported ipsilateral to the facial angioma in 30% to 70% of patients. Of these patients, glaucoma develops in infancy (0 to 2 years) in 60% of patients and in childhood or early adulthood in 40%. The pathogenesis of glaucoma in SWS may occur by two mechanisms, as proposed by Weiss’ dual origin hypothesis. A primary trabeculodysgenesis similar to congenital glaucoma is the main mechanism of infantile glaucoma in SWS, whereas elevated episcleral venous pressure via arteriovenous shunts is associated with the late-onset glaucoma in SWS. Management of glaucoma in these patients has been a therapeutic challenge, with medical and laser trabeculoplasty only being modestly effective in the late-onset group. The majority of infantile and late-onset glaucoma in SWS patients require surgical intervention for control of IOP.
Goniotomy and trabeculotomy have been the primary surgical choices for infantile glaucoma in SWS. This is due largely to its pathologic and mechanistic resemblance to congenital glaucoma. These procedures have been shown to be successful in SWS associated glaucoma; however, the long-term success rates are lower than for similar procedures in eyes with congenital glaucoma, with an average duration of IOP control of only 8 months. Goniotomy and trabeculotomy may have a role as temporizing measures in glaucoma in SWS.
Trabeculectomy creates an alternate outflow channel by bypassing the episcleral venous system and has been reported to have successful outcomes in several case reports. The successful use of adjunctive mitomycin-C and fluorouracil has also been described. It is important to note, massive intraoperative suprachoroidal hemorrhage and choroidal effusions have been reported during trabeculectomy for glaucoma in SWS. The pressure differential between the choroidal venous system and suprachoroidal-subretinal spaces, along with the rapid drop of pressure and hypotony at the time of filtration surgery, accounts for the risk of suprachoroidal hemorrhage and choroidal effusions. To avoid these complications, prophylactic posterior sclerotomies and minimizing intraoperative hypotony have been advocated before filtration surgeries for these patients. Success for glaucoma in SWS by trabeculotomy-trabeculectomy combined procedures, which theoretically overcome both the elements of primary trabeculodysgenesis and elevated episcleral venous pressure, has been reported, and the use of glaucoma drainage implants has also been described.
Our patient underwent a limbal-based trabeculectomy with mitomycin-C. Posterior sclerostomies were performed to avoid intraoperative com- plications. The patient has had a successful long-term outcome with a functioning filtering bleb and controlled IOP without the need for concurrent medical therapy for the past 10 years. Sequential Humphrey visual field testings have demonstrated no progressive field loss, and serial MRI studies have demonstrated no neurologic involvement.
For more information:
- Steven J. Yoon, MD, and Paul R. Cotran, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com.
- Edited by Shazia Ahmed, MD, and My Hanh T. Nguyen, MD. Drs. Ahmed and Nguyen can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866. Drs. Ahmed and Nguyen have no direct financial interest in the products mentioned in this article, nor are they paid consultants for any companies mentioned.
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