GRAND ROUNDS

Desirée Ong, M.D.

PGY-2

Vanderbilt Eye Institute

Patient CP

• 23 yo WM, passenger in MVA, was found unconscious next to vehicle. Driver was not at the scene

• In the ED, pt was noted to have swelling and ecchymosis of the left peri-ocular area

• ED staff noted a unilateral irregular pupil and were concerned about the possibility of an open globe

Exam findings

• Gen: unconscious, unable to be awakened

• No friends or family were present

• No witnesses were at the scene

• VA/VF: unable to obtain

• Pupils: OD 3mm-->2mm, OS irregular pupil with no constriction

• IOP: OD 17

OS 24,25,27

Differential Diagnosis for Corectopia?

Differential Diagnosis• Trauma: high suspicion for open globe, FOB, corneal

perforation, iridodialysis• Iatrogenic: anterior segment surgery• ICE syndrome• Posterior synechiae/inflammatory changes• Iris tumor• Iris coloboma• Iris stromal hypoplasia• Ectropion uveae• Posterior polymorphous dystrophy• Posterior embryotoxin/Axenfeld-Rieger Syndrome• Peter’s Anomaly• Ectopia lentis et Pupillae

Family arrives to bedside..• Pt has a h/o Sturge-Weber syndrome with

glaucoma; pt is s/p tube shunt placement at the age of 6, his left pupil has looked like that since the surgery. Pt has had laser treatments of his port wine stain.

• POH: as above FH: no eye disease or SWS• PMH: none, no seizures or mental retardation• SH: unknown tobacco/alcohol/drug use• Meds: Alphagan and Azopt OS, pt has not been

compliant with his medications• ALL: NKDA

Dilated exam

• Lens: clear both eyes

• Ant vit: clear both eyes

• C/D: 0.2 OD, 0.65-0.7 OS

• D/M/V/P: margins sharp both eyes, pale disc OS, vitreous clear, macula flat, periphery flat 360 degrees of view both eyes

Follow-up

• Pt was discharged, declined to return for f/u

• F/u with local eye care provider

• No visual changes

• VA (sc) OD – 20/20

• OS – 20/50-2 (unchanged)

• IOP OS 25-28 range

Sturge-Weber Syndrome(encephalotrigeminal angiomatosis)

• Phakomatosis (“mother-spot”)

• Hamartomatous hemangiomas of face, eyelid, choroid, retina, meninges, brain

• Abnormal proliferation of blood vessels containing AV shunts

• Rarely bilateral

• Involves parietal and occipital lobes

Comi et al (2005):• Found altered fibronectin expression in

fibroblasts taken from port wine stains and brain compared to normal tissue from same subjects

• Fibronectin has effects on angiogenesis, vessel remodeling, and vessel innervation density

• No known genetic abnormality, possibly a somatic mutation

Comi AM, Weisz CJ, Highet BH, Skolasky RL, Pardo CA, Hess EJ.Sturge-Weber syndrome: altered blood vessel fibronectin expression and morphology.J Child Neurol. 2005 Jul;20(7):572-7.

Statistics

• No known incidence

• No known race or sex predilection

• No known prenatal or environmental risk factors

• Normal life expectancy

• Symptoms worsen with age • Prognosis excellent to guarded

“Catsup Fundus”

Doan A, Kwon YH: Sturge-Weber Syndrome: 4 y.o. child with a history of seizures and glaucoma. February 21, 2005 [cited –8/18/06-- ]; Available from: http://webeye.ophth.uiowa.edu/eyeforum/cases/case13.htm

Sturge-Weber Glaucoma

• Glaucoma in 30-70%, most common with involvement of upper lid

• Congenital (60%), childhood (30%)

• Later onset of sx usually between age 8-20

• May present with photophobia, epiphora, blepharospasm, Haab’s striae, clouding of cornea, buphthalmos, amblyopia

• Retinal and choroidal detachments

Pathophysiology

In 1973, Weiss proposed the following:

• Congenital cases caused by abnormal angles and increased episcleral venous pressure

• Childhood/adulthood cases caused by increased episcleral venous pressure only

• Elevated IOP directly related to decreased aqueous outflow and/or elevated EVP

Weiss DI. Dual origin of glaucoma in encephalotrigeminal haemangiomatosis. Trans Ophthalmol Soc UK. 1973;93:477-493

Angle Abnormalities

• Scleral spur poorly developed • Thickening of uveal and trabecular

meshwork• Displacement of iris root anteriorly • Attachment of ciliary muscle directly to TM• Neovascularization or fibrosis of the

juxtacanalicular region

Aqueous outflow • Aqueous drains from the anterior chamber

through two routes: the conventional route (TM to SC) and uveoscleral outflow

• Hemangiomas upstream cause ↑ blood flow and pressure leading to elevated EVP

Episcleral venous pressure

• Normal EVP = 9 +/- 1.5 mmHg

• SC fills with blood when EVP>IOP (IOP is usually 5-6 mmHg higher)

• AV shunts

• Thyroid orbitopathy, artifact, body position or idiopathic

• Ocular hypotony

Treatment

• Resistant, may need repeat surgery

• Congenital cases: surgical; initial or repeated goniotomy/trabeculotomy, if ineffective, filtration surgery, shunt

• Later-onset: medical tx first, then trabeculectomy with MMC, shunt

• Diode cyclophotocoagulation last resort

Complications• Sudden hypotony can cause large choroidal

effusion or expulsive hemorrhage

• Prophylactic posterior sclerotomy, viscoelastic to AC or tight scleral flap sutures

• Increased risk for anesthesia complications including intracerebral bleed and DIC

Mandal et al. (1999):

• Retrospective study• 9 patients (10 eyes) with SWS glaucoma• Primary combined trabeculotomy-

trabeculectomy without posterior sclerotomy performed by one surgeon

• No intra-op complications• Post-op one pt developed shallow AC with

choroidal detachment managed conservatively

Mandal AM. Primary Combined Trabeculotomy-Trabeculectomy in Sturge-Weber Syndrome. Ophthalmology. 1999;1621-27.

Agarwal et al (1993):

• Retrospective study• 16 pts (19 eyes) with SWS glaucoma• Primary combined trabeculotomy-trabeculectomy

performed in 18 eyes; repeat surgery in three eyes• After average f/u of 42 mo, IOP was ≤ 22 mmHg in

11 eyes (61.1%)• Intra-op complications: hyphema in four eyes

(22.2%), vitreous loss in three eyes (16.7%)• Post-op complications: choroidal detachment in

three eyes (16.7%); vitreous hemorrhage in one (5.6%)

Agarwal HC, Sandramouli S, Sihota R, and Sood NN. Sturge-Weber syndrome: management of glaucoma with combined trabeculotomy-trabeculectomy. Ophthalmic Surg. 1993:24:399–402

• Pre-existing conditions/interventions can be confused for acute findings in the trauma setting

• Certain conditions place pts at risk for complications of surgery and anesthesia

Take home points

References• Agarwal HC, Sandramouli S, Sihota R, and Sood NN. Sturge-Weber syndrome: management of

glaucoma with combined trabeculotomy-trabeculectomy. Ophthalmic Surg. 1993:24:399–402. • Bellows AR, Chylack LT, Epstein DL, et al. Choroidal effusion during glaucoma surgery in

patients with prominent episcleral vessels. Arch Ophthalmol. 1979;97:493-497• Board, RJ, Shields, MB: Combined trabeculotomy-trabeculectomy for the management of

glaucoma in Sturge-Weber Syndrome. Ophthalmic Surg 12:813. 1981.• Cibis GW, Tripathi RC, Tripathi BJ. Glaucoma in Sturge-Weber syndrome. Ophthalmology.

1984;91:1061-1071 • Comi AM, Weisz CJ, Highet BH, Skolasky RL, Pardo CA, Hess EJ.Sturge-Weber syndrome:

altered blood vessel fibronectin expression and morphology.J Child Neurol. 2005 Jul;20(7):572-7.

• Doan A, Kwon YH: Sturge-Weber Syndrome: 4 y.o. child with a history of seizures and glaucoma. February 21, 2005 [cited –8/18/06-- ]; Available from: http://webeye.ophth.uiowa.edu/eyeforum/cases/case13.htm

• Kanski J. Glaucoma. In: Clinical Diagnosis in Ophthalmology. First ed. Philadelphia: Elsevier; 2006:265-98.

• Mandal AM, and Gupta N. Patients with Sturge–Weber syndrome. Ophthalmology. 2004;111: 606.

• Olsen KE, Huang AS, Wright MM. The efficacy of goniotomy/trabeculotomy in early-onset glaucoma associated with the Sturge-Weber Syndrome. JAAPOS 1998;2:365-8.

• Phelps CD. Arterial anastomosis with Schlemm's canal: a rare cause of secondary open-angle glaucoma. Trans Am Ophthalmol Soc. 1985;83:304-15.

• Phelps CD. The pathogenesis of glaucoma in Sturge-Weber syndrome. Ophthalmology 1978;85:276-86

• Weiss DI. Dual origin of glaucoma in encephalotrigeminal haemangiomatosis. Trans Ophthalmol Soc UK. 1973;93:477-493