1. GRAND ROUNDS Desirée Ong, M.D. PGY-2 Vanderbilt Eye Institute

2. 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

5. 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

6. Differential Diagnosis for Corectopia?

7. 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

10. 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

11. 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 360degrees of view both eyes

12. 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

13. 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

15. 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.

16. 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

17. “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

18. 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

19. 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

20. 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

22. 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

23. 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

24. 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

25. 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

27. 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.

28. 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

29. Take home points • 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

30. 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