Journal Reading

Pathophysiology, diagnosis, and management of glaucoma

associated with Sturge–Weber syndrome
Usman Javaid . Muhammad Hassaan Ali . Samreen Jamal . Nadeem Hafeez Butt
Received May 30th 2016, Accepted December 7th 2016, Published Online January 7th 2017

Muhammad Ferdy Asyiraq

NIM. G992108046
Pembimbing: dr. Nisita Suryanto, Sp.M

Kepaniteraan Klinik Ilmu Kesehatan Mata Fakultas

Kedokteran UNS / RSUD Dr. Moewardi Surakarta
September 24th 2021
 01
Introduction
Introduction
Sturge-Weber Syndrome (SWS)

• Encephalotrigeminal angiomatosis, also known as Sturge–Weber syndrome

(SWS), is a condition which includes leptomeningeal hemangioma, facial
angiomatosis or nevus flammeus, and various ocular conditions.
• The prevalence is almost 1:50,000, and there is no difference
between male and female population.
• It is stated that sporadic mutations in the genes at 17p1-13 loci have been
shown to be involved in this syndrome and embryological basis is thought
to be impaired development of neural crest.
Introduction
Sturge-Weber Syndrome (SWS)

Diagnosis is made when the classical signs of the SWS are present which are:
a. Unilateral facial port-wine stain (PWS).
b. Progressive seizures.
c. Hemi-atrophy of cerebral cortex.
d. Contralateral hemiparesis.
e. Hemianopia.
f. Mental deficiencies.
g. Ipsilateral glaucoma
Introduction
Sturge-Weber Syndrome (SWS)

4 types of SWS (based on clinical manifestation):

1. Presence of brain and facial angioma, with or without glaucoma.
2. Portwine stain without brain involvement, with or without glaucoma.
3. Isolated brain angioma, usually without glaucoma.
4. Type 1 associated with systemic manifestations such as tuberous sclerosis.
Introduction
Glaucoma

Glaucoma is an optic neuropathy usually associated with raised intraocular

pressure and characteristic visual field changes. Without treatment, glaucoma
can cause complete, irreversible blindness within a few years.
 Purpose of Study
To determine the pathophysiology, diagnosis, and
treatment of glaucoma associated with Sturge-
Weber Syndrome
 02
Materials & Methods
Materials and Methods

• Literature search on Google Scholar, PubMed, EMBASE, and the Cochrane

library database were conducted for the articles published between January
1998 and December 2015 using the keywords and the references of the
articles were also used as a source for more detailed study of the subject.
• The literature search yielded 45 articles on the basis of inclusion and
exclusion criteria.
• Only full text articles were included.
Materials and Methods
Inclusion and Exclusion Criteria
03
Results
Cutaneous Manifestation of Sturge–Weber Syndrome
1. Port-wine stain (PWS)
a. Usually present on the forehead and the upper eyelid along with the maxillary and
ophthalmic division of trigeminal nerve.
b. Present at birth with flat and light pink appearance, with increasing age  becomes dark
red or purple.
Occular Manifestation of Sturge–Weber Syndrome
 Episcleral vessels dilatation (50%).
 Glaucoma
 Unilateral
 Associated with ipsilateral PWS (both eyelids: 72%, upper only: 21%)
 The most common type is open-angle glaucoma with progressive visual field loss
 Congenital glaucoma is also observed which is commonly associated with corneal haze
(25%), megalocornea, and buphthalmos
 Other anterior segment anomalies
 Iris heterochromia
 Cataract
Occular Manifestation of Sturge–Weber Syndrome
 Posterior segment anomalies
• Choroidal hemangioma (20-70%)  diffuse type with bright red or red orange
appearance of fundus
Occular Manifestation of Sturge–Weber Syndrome

 Other ocular pathologies

 Subretinal hemorraghes
 Retinal degeneration
 Serous retinal detachment
 Serous macular detachment
 Photoreceptor degeneration
 Cystoid macular edema
 Optic disk coloboma
Pathophysiology of glaucoma associated with Sturge–Weber
syndrome
• Theories on pathophysiology of glaucoma associated with Sturge-Weber
syndrome:
a. Increased resistance to aqueous humor outflow due to congenital malformation of the
anterior chamber angle in SWS (obstruction)
b. Increased episcleral venous pressure (EVP) due to vascular impairment in SWS (episcleral
hemangiomas, hypertrophy, and dilatation)
c. Ciliochoroidal hemangioma fluid hypersecretion leading to effusion
d. Premature aging of the trabecular meshwork and Schlemm’s canal in SWS leading to
abnormal hemodynamics of episclera and anterior chamber
 04
Discussion
(Treatment Modalities)
Medicine Treatment
 Very low evidence due to rare case of SWS  Low efficacy of medicine
treatment
 Anti-glaucoma drugs : Latanoprost
 Effective in controlling glaucoma on almost 50% of 14 SWS patients (Ong et al.)
 Significant pressure reduction on almost 33% of SWS patients (Yang et al.)
 Propanolol also shown efficacy as an alternative medicine to reduce
intraocular pressure in SWS (Wygnansky-Jaffe et al.)
Surgical Treatment
 Commonly used in patients less than 2 years old
 Surgical intervention depends on the types of glaucoma as in patient with
SWS usually associated with open angles glaucoma
 Posterior lip sclerotomy and trabeculotomy-trabeculectomy
• Create new outflow tract for aqueous humor
• But came with various complications: choroidal hemorrhage, prolonged flat anterior
chamber, high risk bleb failure.
 Goniotomy  Anterior chamber malformations
 Non-penetrating sclerotomy  Less complications
 Valve implant  control the intra ocular pressure by improving aqueous
humor outflow
Surgical Treatment
 Various modifications on surgical treatment were done to lower the chance of
the complications
• Viscoelastic device injection  decrease IOP intra-operatively (Irfani & Hardwiyani,
2016)
• Healon (sodium hyaluronate) injection prior to penetrating inner window  avoid any
sudden change of IOP
 05
Conclusion
Conclusion
 Glaucoma is the most common ocular manifestation found in Sturge-Weber
Syndrome (SWS) and is quite challenging to treat as it shows low efficacy of
medicine treatment. Various surgery treatments can be used to treat it but
comes with various of complications (hemorrhages, effusion).
 Some surgery modifications can be used to lower the chance of those
complications to occur and maintain the success of the surgery. However,
surgical success rates are still low due to the multipathogenic factors of the
syndrome.
 Glaucoma in Sturge-Weber Syndrome still represents the worst prognosis on
vision of SWS patients.
Thank You!