This document summarizes a case presentation about a 16-year-old female with Sturge-Weber syndrome who presented with loss of vision in her left eye. Examination found glaucoma, a port-wine stain on her left eye, and a choroidal hemangioma with subretinal fluid. She was treated with anti-VEGF injections and may require radiotherapy if vision does not improve. The document also reviews characteristics of Sturge-Weber syndrome such as glaucoma risk, choroidal hemangiomas, and treatments including surgery, radiotherapy, and anti-VEGF drugs.

1. Red Stains and the Eye
Ophthalmology Grand Rounds
Karim Sleiman, MD
PGY-2
December 2020

3. Case: 16 y.o. female
HPI: loss of vision in OS, progressive over 1 year.
History
POHx: negative
PMHx: isolated nevus flammeus
PSHx: negative
Family Hx: not contributory
Social Hx: not contributory
Meds: none
Allergies :none

4. Case: 16 y.o. female
HPI: loss of vision in OS, progressive over 1 year.
V sc 20/20 PH 20/20
20/400 PH 20/100
Pupils: Rx OU. No relative APD.
T app 17 mmHg
(12 pm) 22 mmHg
History
POHx: negative
PMHx: isolated nevus flammeus
PSHx: negative
Family Hx: not contributory
Social Hx: not contributory
Meds: none
Allergies :none

5. Loss of Vision - Differential Diagnosis (1)
- Refractive error MRx plano 20/20
+2.50 +0.75 x 30 20/100

6. Slit Lamp Exam + Auxiliary Exam
Orbit: normal OD
port-wine stain OS
Lids: normal OD
port-wine stain OS
Conjunctiva: normal OU
Cornea: normal OU
A/C: normal OU

7. Dilated Fundus Exam (1)

8. Exam (summary)
OD OS
BCVA 20/20 20/100
T app 17 mmHg 22 mmHg
Anterior exam within normal limits port-wine stain .
Posterior pole within normal limits abnormal
cup:disc 0.4 0.7

9. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- Glaucoma
OD OS
BCVA 20/20 20/100
T app 17 mmHg 22 mmHg

10. Central Corneal Thickness
OD: 510 μm
OS: 539 μm

11. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- Glaucoma
average CCT: 545 μm
🠗 10 μm = 🠗 1 mmHg
Shih et al, 2004. Archives of ophthalmology.
OD OS
BCVA 20/20 20/100
T app 17 mmHg 22 mmHg
CCT 510 μm 539 μm

12. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- Glaucoma
average CCT: 545 μm
🠗 10 μm = 🠗 1 mmHg
Shih et al, 2004. Archives of ophthalmology.
OD OS
BCVA 20/20 20/100
T app 17 mmHg 22 mmHg
CCT 510 μm 539 μm
IOP (adjusted) 21 mmHg 22 mmHg

13. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- Glaucoma
average CCT: 545 μm
🠗 10 μm = 🠗 1 mmHg
Shih et al, 2004. Archives of ophthalmology.
OD OS
BCVA 20/20 20/100
T app 17 mmHg 22 mmHg
CCT 510 μm 539 μm
IOP (adjusted) 21 mmHg 22 mmHg
cup:disc 0.4 0.7

14. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- Glaucoma
OD OS
BCVA 20/20 20/100
T app 17 mmHg 22 mmHg
CCT 510 μm 539 μm
IOP (adjusted) 21 mmHg 22 mmHg
cup:disc 0.4 0.7
Diagnosis ?
port-wine stain .

15. Sturge-Weber Syndrome
aka. Encephalo-Trigeminal Angiomatosis
Rare, congenital, neuro-oculo-cutaneous disorder

16. Sturge-Weber Syndrome
aka. Encephalo-Trigeminal Angiomatosis
Rare, congenital, neuro-oculo-cutaneous disorder

17. Sturge-Weber Syndrome
aka. Encephalo-Trigeminal Angiomatosis
Rare, congenital, neuro-oculo-cutaneous disorder
- Unilateral port-wine birthmark
- Glaucoma
- Hemianopsia
- Intracranial leptomeningeal angioma
- Progressive seizures
- Choroidal hemangioma
- Cognitive impairment, autism spectrum
- Hemiatrophy, hemiparesis

18. SWS Disease Features
Incidence ~ 1:50 k infants. Gender neutral.
Non- hereditary. Non-malignant.
Type
Facial
angioma
Leptomeningeal
angioma
Glaucoma
Systemic manifestation
e.g. tuberous sclerosis
Type I + + ± ±
Type II + − ± −
Type III − + ± −
Type IV + + ± +

19. Glaucoma in Sturge-Weber Syndrome ~ 1:3 - 2:3
Onset type Pathogenesis Initial treatment
Later-onset
SWS Glaucoma
70%
Ectatic vessels from PWS
High episcleral v. pressure
± premature ageing of TM
Latanoprost
ECM remodeling,
lower ciliary m. resistance,
higher uveal outflow
Other mechanisms include high secretion from choroidal hemangioma

20. Glaucoma in Sturge-Weber Syndrome ~ 1:3 - 2:3
Onset type Pathogenesis Initial treatment
Later-onset
SWS Glaucoma
70%
Ectatic vessels from PWS
High episcleral v. pressure
± premature ageing of TM
Latanoprost
ECM remodeling,
lower ciliary m. resistance,
higher uveal outflow
Congenital
SWS Glaucoma
30%
Increased resistance of flow
A.C. angle malformation
CAIs (dorzolamide),
B-blockers (timolol),
adr. agonists (brimonidine)
aqueous suppression
Other mechanisms include high secretion from choroidal hemangioma

21. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- SWS Glaucoma
OD OS
BCVA 20/20 20/100
IOP 21 mmHg 22 mmHg
cup:disc 0.4 0.7
port-wine stain .
Next step in management?

22. OCT Nerve Fiber Layer

23. OCT Nerve Fiber Layer

24. OCT Nerve Fiber Layer

25. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- SWS Glaucoma
OD OS
BCVA 20/20 20/100
IOP 19 mmHg 21 mmHg
OCT RNFL within normal inferior thinning
Next step in management ?
port-wine stain .
Tx: Latanoprost (Xalatan) → no response

26. SWS Glaucoma Tx
Eventually invariably resistant to medical Tx.
Surgery:
- Goniotomy
- Trabeculectomy
- Glaucoma drainage device / MIGS
Next step in management?

27. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- SWS Glaucoma
OD OS
BCVA 20/20 20/100 (eccentric)
IOP 19 mmHg 21 mmHg
OCT RNFL within normal inferior thinning
Resistant to medical Tx. → Surgical candidate ?
port-wine stain .
Is the the central loss of VA explained ?
Confounding pathology ?

28. Color Fundus Photo (red-green)

29. ketchup fundus ? .

30. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- SWS Glaucoma
- Mass ?
OD OS
BCVA 20/20 20/100
IOP (adjusted) 21 mmHg 22 mmHg
OCT RNFL within normal inferior thinning
Color FP within normal elevated retina
ketchup fundus .

31. Loss of Vision - Differential Diagnosis (2)
- Refractive error
- SWS Glaucoma
- Choroidal metastasis
- Choroidal melanoma
- Choroidal hemangioma
OD OS
BCVA 20/20 20/100
IOP (adjusted) 21 mmHg 22 mmHg
OCT RNFL within normal inferior thinning
Color FP within normal elevated retina
ketchup fundus .
Next step in management?

32. Ultrasound B-scan
OD temporal view OS temporal view

33. Ultrasound B-scan (2)
OD naso-central view OS naso-central view

34. Loss of Vision - Differential Diagnosis (3)
- Refractive error
- SWS Glaucoma
- Choroidal metastasis
- Choroidal melanoma
- Choroidal hemangioma
- Choroidal NV
Pachychoroid Differential Dx
- Vitreal traction, macular hole
- Peripheral retinal break
- Optic neuritis, papilledema, disc pit
- Choroidal metastasis
- Choroidal melanoma
- Choroidal hemangioma
- Choroid neovasculopathy
- Choroidal polypoidal vasculopathy
- Uveitis
- Systemic hypertension

35. Loss of Vision - Differential Diagnosis (3)
- Refractive error
- SWS Glaucoma
- Choroidal metastasis
- Choroidal melanoma
- Choroidal hemangioma
- Choroidal NV
ketchup fundus .
elevated retina

36. Choroidal Hemangioma in SWS ~ 1:5 - 3:5
More common when the PWS involves the upper lid.
Typically diffuse in SWS
vs localized / circumscribed
→ Higher risk of SWS glaucoma
Imaging: FFA, ICG-A, B-scan US, OCT, MRI

37. SWS Choroidal Hemangioma implications
→ Vision loss via:
- Subretinal hemorrhage
- Cystoid macular edema
- Exudative retinal detachment, macular serous detachment
- Tortuous retinal vessels
- Optic disc coloboma
→ Risk of expulsive choroidal hemorrhage during surgery

38. Loss of Vision - Differential Diagnosis (3)
- Refractive error
- SWS Glaucoma, late-onset → surgical candidate ?
- Choroidal metastasis
- Choroidal melanoma
- Choroidal hemangioma
- Choroidal NV
ketchup fundus .
elevated retina

39. Loss of Vision - Differential Diagnosis (3)
- Refractive error
- SWS Glaucoma, late-onset → surgical candidate ?
- Choroidal metastasis
- Choroidal melanoma
- Choroidal hemangioma ? SWS
- Choroidal NV ?
ketchup fundus .
elevated retina
Next step in management?

40. Autofluorescence

41. Loss of Vision - Differential Diagnosis (4)
- Refractive error
- SWS Glaucoma, late-onset → surgical candidate ?
- Choroidal metastasis
- Choroidal melanoma
- SWS Choroidal hemangioma + SR fluid
- Choroidal NV ?
ketchup fundus .
elevated retina
How to treat ?

42. SWS Choroidal Hemangioma Tx
Aim of Rx: to treat intermediary cause of vision loss
Causes of vision loss:
- Refractive error
- Foveal distortion
- Exudative retinal detachment

43. SWS Choroidal Hemangioma Tx Modalities
Decrease hemangioma leakage
→ allow resolution of Subretinal Fluid
→ shrinkage of macular pathology SR fluid
Successful modalities not widely available
Radiotherapy (external beam, stereotactic, proton beam)
Plaque brachytherapy
Recent modalities:
Photodynamic therapy with verteporfin
Anti-VEGF adjunct therapy

44. OCT Macula

45. OCT Macula

46. OCT Macula

47. OCT Angiography

48. Choroidal Hemangioma and Choroidal Neovessels
SWS → Diffuse CH + SR fluid. No NV !!
vs
Localized / Circumscribed CH ← isolated finding (no SWS)
± associated with CNV
SWS → ? → CNV

49. Loss of Vision - Differential Diagnosis (5)
- Refractive error
- SWS Glaucoma, late-onset → surgical candidate ?
- Choroidal metastasis
- Choroidal melanoma
- SWS Choroidal hemangioma + SR fluid
- Choroidal NV
ketchup fundus .
Why CNV ?

50. Incidentally-captured Red-free Fundus Photos

51. Red-free Fundus Photography

52. Angioid Streaks
Narrow, irregular lines. Radiating out of the optic disc.
Resulting from breaks in a weak Bruch's membrane.
Associated with systemic diseases
Pseudoxanthoma elasticum, Ehler-Danlos syndrome, Paget's disease of bone,
Sickle cell disease and other hemoglobinopathies, Idiopathic → PEPSI
Other systemic associations include: facial angiomatosis, Sturge-Weber syndrome, tuberous
sclerosis, neurofibromatosis, acromegaly, diabetes mellitus, senile elastosis, myopia,
abetalipoproteinemia, hemochromatosis, hemolytic anemia, hereditary spherocytosis, hypercalcinosis,
hyperphosphatemia, lead poisoning.

53. Angioid Streaks Complications
Choroidal fibrovascular ingrowth
→ Subretinal hemorrhages
→ spontaneously resolve or
→ Choroidal Neovascularization
→ Recurrent CNV → progressive visual loss.

54. Loss of Vision - Differential Diagnosis (5)
- Refractive error
- SWS Glaucoma, late-onset → surgical candidate ?
- Choroidal metastasis
- Choroidal melanoma
- SWS Choroidal hemangioma + SR fluid
- Choroidal NV
ketchup fundus .
How to treat ?

55. Loss of Vision - Differential Diagnosis (4)
- Refractive error
- SWS Glaucoma, late-onset → surgical candidate ?
- Choroidal metastasis
- Choroidal melanoma
- SWS Choroidal hemangioma + SR fluid
- Choroidal NV secondary to SWS Angioid Streaks
ketchup fundus .
How to treat ?

56. Anti-VEGF injection
Baseline
Week 3 Intravitreal aflibercept (eylea) #1
Week 9

57. Plan - continued
Week 10 Intravitreal aflibercept #2
Pending OCT at Week 16
If no improvement, plan for Radiotherapy.

58. Phakomatoses
Syndromic hamartomas of skin, eye, CNS and viscera
- SWS
- Neurofibramotosis types 1 and 2
- Tuberous sclerosis
- Von Hippel-Lindau syndrome
- Wyburn-Mason syndrome
- Less common ones: Klipple trenaunay Weber syndrome, Louis bar syndrome,
Diffuse congenital hemangiomatosis, Basal cell nevus syndrome,
Oculodermal melanocytosis.

59. SWS
Unique in the 4 major neurocutaneous syndromes: Not a genetically transmitted.
CNS Manifestations:
- Ipsilateral leptomeningeal hemangiomatosis
- Atrophy of cortical parenchyma
- Lesions present at birth, detected by MRI or CT
- Meninges become irregularly calcified, detected by Skull radiographs

60. SWS Ocular Manifestations
- Increased conjunctival vascularity → pinkish discoloration
- Abnormal plexus of episcleral vessels
- Increased numbers of well-formed choroidal vessels - most significant
- Glaucoma difficult to manage
Risk of glaucoma surgery:
→ Massive exudation or hemorrhage due to anomalous choroidal vessels
→ Rapid ocular decompression

61. NF 1 and NF 2
Neuroectodermal tumors arising within multiple organs.
Autosomal dominant inheritance.
NF1 (Von Recklinghausen’s neurofibromatosis or Peripheral Neurofibromatoses)
Café-au-lait spots, Peripheral neurofibromas, Lisch nodules
NF2 (central or bilateral acoustic neurofibromatosis)
CNS tumors: meningiomas, gliomas, and schwannomas

62. NF 1 Ocular findings
- Lisch nodules
- Neurofibroma or plexiform neurofibroma of eyelid
- Congenital glaucoma
- Optic nerve or chiasmal gliomas
- Uveal tract
- Lignes grises – Hyperplastic intrastromal nerves
- Conjunctival hamartomas
- Orbital involvement
- Strabismus
- Retinal abnormalities

63. NF 2 Ocular findings
Ocular findings may predate the onset of symptoms
- PSCO or Wedge cortical cataract
- Retinal hamartoma (less common)
- Combined hamartomas of the retina and RPE (less common)

64. Tuberous Sclerosis aka. Bourneville disease.
Vogt triad:
- Intellectual impairment
- Seizures
- Facial angiofibromas
Primary features:
- Facial angiofibroma
- Ungual fibromas (multiple)
- Cortical tuber
- Subependymal nodule (giant cell astrocytoma)
- Multiple retinal astrocytomas

65. Tuberous Sclerosis Ocular Manifestations
Occasional hypopigmented lesions (like skin white spots) in iris or choroid
Retinal astrocytic hamartoma or Retinal Phakoma
- Arise from astrocytes of sensory retina
- Can occur anywhere in the fundus
- Vary in size from about half to twice the DD
- Significant effect on the vision is rare

66. Thank you
Questions ?