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

Weronika Mularska1, Iwona Przybylska-Rybczyńska1, Jarosław Kocięcki1
Ophthalmol J 2022;7:103-108.

Abstract

Sturge-Weber Syndrome (SWS) is a birth-set defect belonging to the phacomatosis group. Some patients may develop ophthalmic symptoms such as glaucoma, choroidal tumors, eyelids’ vascular lesions, and an eye’s anterior segment. This paper aims to present the course of SWS for ophthalmic patients in long-term observation. We treated three patients at the Glaucoma Outpatient Clinic, Ophthalmology Department of the University of Medical Sciences in Poznan, Poland, between 2004 and 2021. We diagnosed open-angle secondary glaucoma in all patients and choroidal hemangioma in two cases. Differential diagnoses included other optic nerve pathologies. In two patients, glaucoma was well controlled pharmacologically in long-term follow-up. One patient required taking the risk of surgical treatment. All patients needed interdisciplinary cooperation due to general symptoms and are under ophthalmological control.

Case report

DOI: 10.5603/OJ.2022.0017

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

Weronika MularskaIwona Przybylska-RybczyńskaJarosław Kocięcki
Department of Ophthalmology, University of Medical Sciences, Poznan, Poland

Corresponding author:

Iwona Przybylska-Rybczyńska, Glaucoma Outpatient Clinic, Department of Ophthalmology, Poznan University of Medical Sciences, Szamarzewskiego Street 82/84, 60–569 Poznań, Poland; e-mail: rybczynska.okulistyka@gmail.com

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

ABSTRACT
Sturge-Weber Syndrome (SWS) is a birth-set defect belonging to the phacomatosis group. Some patients may develop ophthalmic symptoms such as glaucoma, choroidal tumors, eyelids’ vascular lesions, and an eye’s anterior segment. This paper aims to present the course of SWS for ophthalmic patients in long-term observation. We treated three patients at the Glaucoma Outpatient Clinic, Ophthalmology Department of the University of Medical Sciences in Poznan, Poland, between 2004 and 2021. We diagnosed open-angle secondary glaucoma in all patients and choroidal hemangioma in two cases. Differential diagnoses included other optic nerve pathologies. In two patients, glaucoma was well controlled pharmacologically in long-term follow-up. One patient required taking the risk of surgical treatment. All patients needed interdisciplinary cooperation due to general symptoms and are under ophthalmological control.
Key words: Sturge-Weber syndrome; secondary glaucoma; choroidal hemangioma; vascular malformation
Ophthalmol J 2022; Vol. 7, 103–108

Introduction

Sturge-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 1

A 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, the patient underwent magnetic resonance imaging (MRI) in the pediatric ward, but no meninge and brain hemangioma were found. The patient suffers from frequent headaches, psychomotor disorder, and speech retardation. The karyotype test result was normal, ruling out chromosomal aberration as a differential diagnosis.

The best corrected visual acuity (BCVA) was 1.0 for both eyes on the Snellen chart. The patient had open angles on the gonioscopy evaluation, the blood in Schlemm’s canal, and defects in the retinal nerve fiber layer (RNFL) in the upper and nasal quadrants of both eyes on the optical coherence tomography (OCT) examination, and the corresponding defects in the visual field. In fundoscopy, we observed pink disc of both optic nerves, cup to disc ratio (c/d) 0.1–0.2. We decided to observe the patient and treat her with topical dorzolamide and timolol with regular check-up.

The patient was hospitalized again in the neurological ward due to persistent headaches and suspected SWS. No significant intracranial pathology was found, and type 2 SWS was diagnosed. Due to secondary amenorrhea, the patient was hospitalized in the gynecological and endocrinology department, where disorders of the hypothalamic-pituitary axis, hirsutism, and subclinical hypothyroidism were diagnosed.

In the follow-up period of almost three years, the patient’s VA was stable (1.0 on the Snellen chart for each eye), IOP well-controlled (below 15 mm Hg for both eyes), and we did not notice a progression in the visual field test. We diagnosed open-angle glaucoma in both eyes and indicated topical treatment with dorzolamide and timolol. We recommended consultations at the Department that deals with the treatment of vascular lesions of the head and neck.

Case 2

A 17-year-old man was referred to the GOC for surgical treatment due to the progression of glaucomatous neuropathy and the lack of normalization of IOP in the left eye despite topical treatment composed of beta-blocker, prostaglandin agonist, and carbonic anhydrase inhibitor. The patient was diagnosed with SWS after birth. Glaucoma occurred at the age of 4, and epilepsy occurred at the age of 15. He presented skin lesions, as shown in Figure 1AB. He needed correction for hyperopia of both eyes. MRI of the head revealed hemangioma of the meninges, so the patient suffered from type 1 SWS.

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Figure 1A–C. Skin lesions

The right eye had BCVA 1.0 on the Snellen chart, IOP 16 mm Hg without droplets, a wide open angle on gonioscopy examination, and a pink disc of the optic nerve on fundus examination. The patient’s BCVA was 0.7 on the Snellen chart and IOP = 25 mm Hg for the left eye. We observed dilated conjunctival vessels and episcleral vascular loops in the anterior segment of the eye, as shown in Figure 2A, and an open angle in gonioscopy with blood in Schlemm’s canal and vascular loops. We observed wider c/d radio up to 0.8–0.9, a wrinkled macula, and suspected choroidal hemangioma on fundus examination and OCT, as shown in Figure 3ABH. Ultrasound examination revealed hyporeflective thickening of the choroid layer, as shown in Figure 3G. Due to suspicion of choroidal hemangioma, we followed diagnosis by fluorescein and indocyanine green angiography (IGA) examinations, as shown in Figure 3C–F. Fluorescein angiography detected choroidal folds and IGA revealed hyperfluorescence increasing with time.

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Figure 2AB. Changes in the anterior segment of the eye: numerous vessel loops of the conjunctiva, sclera, and iris
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Figure 3. A, B. Colorful and in autofluorescence fundus photography; C–F. The fluorescein angiography examination did not give a precise result, so it required verification in indocyanine green angiography; G, H. Diffuse choroidal hemangioma in ultrasonography (USG) examination and optical coherent tomography (OCT) scan of the macula

Due to vascular lesions of the anterior segment and fundus of the left eye and the high risk of massive bleeding, we attempted pharmacological treatment. We changed medications to combined timolol, and dorzolamide eye drops were administered twice daily. That allowed the patient to be more systematic and helped to control IOP. We obtained normalization of IOP, up to 16 mm Hg, and stabilization in the visual field and RNFL during the subsequent follow-ups, so we resigned from surgery. The patient did not have progression of neuropathy or complications of diffuse choroidal hemangioma during observation for more than ten years. VA was stable in both eyes. We did not recommend brachytherapy or laser therapy for the affected eye due to the risk of complications and a significant reduction in visual acuity after treatment.

Case 3

A 38-year-old woman was referred to the GOC for surgical treatment due to the progression of the lack of normalization of IOP and glaucomatous neuropathy progression in the left eye. The patient suffered from SWS and secondary open-angle glaucoma of both eyes from childhood. We noticed vascular lesions with tissue hypertrophy on the face and neck, as shown in Figure 1C. The patient also suffered from long-term depression.

The BCVA of the right eye was 1,0, and the IOP was 19 mm Hg, but the patient used topical drops. We observed vascular anomalies in anterior segments of both eyes, as shown in Figure 2B. The visual field and RNFL of the right eye were stable for 6 years.

For the left eye, the patient had been treated successfully with latanoprost and a combined preparation of dorzolamide with timolol and brimonidine. However, the last few weeks had an IOP peak above 37 mm Hg. BCVA was 0.3. The patient had a wide open angle in gonioscopy and blood in Schlemm’s canal in both eyes. In the fundus examination of the left eye, the patient had a pale optic disc and choroidal hemangioma in the upper temporal arcade with old patches after retinal laser therapy, without subretinal fluid on OCT.

Postoperative hypotonia occurred, IOP decreased to 10 mm Hg in the left eye, and BCVA was 0.3 on follow-up visits. We observed neuropathy progression in the visual field during the next four years of follow-up.

Discussion

SWS is a birth-set defect that belongs to the phacomatosis group. It happens with the same frequency in both genders, with a population frequency of 1/20,000–1/50,000 live births [1, 2]. In type I, the most common, there are vascular changes on the face skin and vascular anomalies of the meninges. In type II, a facial vascular anomaly occurs without central nervous system involvement, and in type III isolated meninges angioma can be observed. Glaucoma may appear in any type. The risk of neurological and ophthalmic disorders increases if skin lesions extend beyond the innervation of the ocular branch of the trigeminal nerve or have a bilateral localization [3]. CNS imaging tests may be required to diagnose the components of the SWS.

General symptoms include epilepsy, headache, various levels of cognitive or psychomotor impairment, and sleep disturbances [3]. Help from a psychologist might be needed for the patients. Medical staff or parents of diseased children may notice the first signs of disease: seizures or skin lesions and vascular malformations on the face, known as flat birthmarks or port-wine stain (PWS). They may be mistaken for capillary hemangiomas (“strawberry birthmark”) and can also occur as isolated lesions. Only 5% to 15% of children with PWS show other features of SWS. In the presented group of patients, skin lesions were visible from birth, initially alone without other signs or reported complaints. Occasionally vascular malformations can also affect the meninges, eye, mucous membranes of the mouth, and throat. The pulsed dye laser reduces skin tissue discoloration and hypertrophy in PWS [1].

Hemangiomas occur with a frequency of 20% to 70% in SWS. Therefore, it is necessary to screen each ophthalmic patient: USG of the eyeball and eye socket is indicated [4]. We diagnosed diffuse choroidal hemangioma in two of our patients. 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. Possible complications include a decrease in VA, an accumulation of subretinal fluid, progressive retinal detachment, and neovascular glaucoma [6, 7]. In the treatment of diffuse choroidal hemangioma might be used: external beam radiotherapy, brachytherapy, verteporfin photodynamic therapy, laser coagulation, and transpupillary thermotherapy [8, 9]. The procedure aims to reduce tumor mass and the risk of retinal detachment. We can also observe the patient for many years without progression, as in the examples mentioned above.

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.

Glaucoma can appear early in childhood or in adulthood. It occurs in 30% to 60% of patients, with the highest peak observed in the first year of life, approximately in 40% of all cases [2]. All of our patients had glaucoma diagnosed early as a child. The main pathomechanism is angle defect or elevated epidural venous pressure, but the pathogenesis is often complex. 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]. Both pharmacological medications and surgery (trabeculectomy, trabeculotomy, non-penetrating deep sclerectomy, cyclodestructive procedures, glaucoma drainage devices, etc.) can be used as a satisfactory treatment. Surgery complications include bleeding, hypotension, and hemorrhagic detachment of the choroid [10–12]. We managed to maintain satisfactory long-term control of glaucomatous neuropathy in two cases by using topical pharmacotherapy. However, one patient required a trabeculectomy with MMC.

General symptoms in SWS are common. We controlled them in interdisciplinary cooperation.

Conclusions

Patients with SWS require regular follow-up visits, long-term treatment, and multi-specialist evaluation.

Regardless of the severity of the changes, periodic permanent ophthalmological monitoring is necessary due to the possible progression of optic neuropathy, changes in the character of the lesions, and the appearance of new ones.

It is mandatory to diagnose these patients for the presence of open-angle secondary glaucoma and check for diffuse choroidal hemangioma occurrence.

Control of glaucoma with topical treatment is possible.

Difficulties in surgery are associated with the risk of massive bleeding so every patient needs careful clinical examination and a risk factor estimate before qualifying for invasive intervention. The best solutions are still sought due to the rarity of the syndrome. Each clinical case can provide valuable information for the future.

Statement of ethics

Written informed consent was obtained from all participants to publish the details of their medical care and any accompanying images.

Conflict of interest

The authors have no conflicts of interest to declare.

Funding

We declare no outside sources in the preparation of data or the manuscript and the funding of any research relevant to our study. All participants were patients of Ophthalmology Outpatient Clinic in Poznan University of Medical Sciences in Poland and had their routine regular checks-up there.

Author contributions

All authors discussed the results and contributed to the final manuscript.

Data availability

Data generated or analyzed during this study are included in this article. Further inquiries can be directed to the corresponding author.

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