Visual outcome in Sturge–Weber syndrome: a systematic review and Dutch multicentre cohort

Koenraads, Yvonne; Egmond-Ebbeling, Michelle B. van; Boer, Joke H. de; Imhof, Saskia M.; Braun, Kees P.J.; Porro, Giorgio L.

doi:10.1111/aos.13074

Cited by 17 publications

(10 citation statements)

References 44 publications

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“…Usually, patients with anatomical abnormalities present symptoms early. Late-onset glaucoma might also be associated with elevated epidural venous pressure, possibly with visible blood in the Schlemm's canal, as we saw in all of our patients [5]. Acute angle-closure glaucoma has been reported rarely [4,6].…”

Section: Discussionsupporting

confidence: 50%

“…It is a benign vascular tumor that appears as a red-orange mass, often in a large fundus area. It may initially be asymptomatic and not recognizable by ophthalmoscopy examination due to its color [5]. In the second presented case, only IGA allowed to recognize confidently the presence of the tumor.…”

Section: Discussionmentioning

confidence: 84%

“…Changes in VA or loss of visual field may result from a combination of glaucoma, choroidal hemangioma, or brain lesions, but the most common cause of vision deterioration is glaucoma [5]. This often causes difficulties in interpreting and deciding how to continue treatment, and each cause should be considered.…”

Section: Discussionmentioning

confidence: 99%

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Ophthalmic manifestations and management of Sturge-Weber Syndrome in long-term observation

Mularska

Przybylska-Rybczyńska

Kocięcki

2022

Ophthalmol J

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This article is available in open access under Creative Common Attribution-Non-Commercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially IntroductIonSturge-Weber Syndrome (SWS) is a birth set, neuromuscular syndrome. The disease appears as vascular skin lesions, general complaints, and ophthalmic symptoms. They mainly include glaucoma, choroidal hemangioma of the fundus, vascular lesions of the eyelids, and anterior eye segment. Diagnosis and treatment can be difficult. This paper aims to present the course and treatment of SWS for ophthalmic patients in long-term observation. case presentatIon case 1A 16-year-old female was referred to the Glaucoma Outpatient Clinic (GOC) due to elevated intraocular pressure in both eyes in applanation tonometry (IOP), up to 26 mm Hg for the right eye and up to 29 for the left eye despite timolol administered 2 times per day. The patient presented port-wine stains (PWS) on the face and neck, noticed after birth. Due to clinical suspicion of SWS,

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Section: Discussionsupporting

confidence: 50%

Section: Discussionmentioning

confidence: 84%

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Ophthalmic manifestations and management of Sturge-Weber Syndrome in long-term observation

Mularska

Przybylska-Rybczyńska

Kocięcki

2022

Ophthalmol J

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“…Homonymous hemianopia was the most commonly reported visual field defect and was present in approximately 40% of the patients. [100]…”

Section: Other Ocular Abnormalitiesmentioning

confidence: 99%

Ocular Manifestations of the Sturge–Weber Syndrome

Hassanpour

Nourinia

Gerami

et al. 2021

JOVR

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Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient’s visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery.

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“…It can, however, be challenging to perform in patients with intellectual disabilities. The visual field must be interpreted with caution, as patients with ETA may also have visual field defects due to diffuse choroidal hemangiomas or homonymous hemianopia secondary to occipital involvement of leptomeningeal angioma (Koenraads et al, ).…”

Section: Encephalotrigeminal Angiomatosis (Sturge‐weber Syndrome)mentioning

confidence: 99%

Pathophysiology and management of glaucoma associated with phakomatoses

Thavikulwat

Edward

AlDarrab

et al. 2018

J of Neuroscience Research

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The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe. Glaucoma commonly affects patients with ETA (43-72%), orbito-facial NF1 (23-50%), and ODM (10%). Rarely, it may present as neovascular glaucoma in VHL and TSC. In ETA, glaucoma typically occurs ipsilateral to the port-wine stain, which is caused by a mutation in the GNAQ gene. Specifically, mechanical malformation of the anterior chamber angle and elevated episcleral venous pressure has been implicated as causes of glaucoma in ETA. In NF1, which is caused by a mutation in the NF1 tumor suppressor gene, glaucoma commonly occurs ipsilateral to lid plexiform neurofibromas. Histological studies of eyes with NF1 have revealed direct anterior chamber infiltration by neurofibromas, secondary angle closure, fibrovascularization, and developmental angle abnormalities as mechanisms of glaucoma. Lastly, phakomatosis pigmentovascularis is a rare combination of ODM and port-wine stain. Affected patients are at very high risk of developing glaucoma. Despite the many different mechanisms of glaucomatous damage, management follows similar principles as that for congenital glaucoma and primary open angle glaucoma. First-line therapy is topical intraocular pressure-lowering eye drops. Surgical management, including goniotomy, trabeculotomy, trabeculectomy, and tube shunt placement may be required for more severe cases.

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Visual outcome in Sturge–Weber syndrome: a systematic review and Dutch multicentre cohort

Cited by 17 publications

References 44 publications

Ophthalmic manifestations and management of Sturge-Weber Syndrome in long-term observation

Ophthalmic manifestations and management of Sturge-Weber Syndrome in long-term observation

Ocular Manifestations of the Sturge–Weber Syndrome

Pathophysiology and management of glaucoma associated with phakomatoses

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