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 Table of Contents  
Year : 2017  |  Volume : 29  |  Issue : 3  |  Page : 226-229

Conjunctival melanosis with retinal vessel tortuosity: An unusual presentation of Sturge–Weber syndrome

Department of Ophthalmology, Government Medical College, Kozhikode, Kerala, India

Date of Web Publication30-Jan-2018

Correspondence Address:
Dr. Padma B Prabhu
19/2313, ‘Swathi,’ Chempaka Housing Colony, Pottammal, Kozhikode - 673 008, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/kjo.kjo_95_17

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Sturge–Weber syndrome (SWS) is a rare neuro-oculocutaneous disorder. The classical signs are unilateral facial port wine stain, leptomeningeal angiomas, and their sequele with ipsilateral glaucoma. Here, we are reporting two cases of SWS associated with conjunctival melanosis and retinal vascular tortuosity. This unusual coincidence maybe representative of a unique entity named phacomatosis pigmentovascularis.

Keywords: Conjunctival melanosis, leptomeningeal angioma, phacomatosis pigmentovascularis, port wine stain, retinal vessel tortuosity, Sturge–Weber syndrome

How to cite this article:
Prabhu PB, Soman D, Babitha V. Conjunctival melanosis with retinal vessel tortuosity: An unusual presentation of Sturge–Weber syndrome. Kerala J Ophthalmol 2017;29:226-9

How to cite this URL:
Prabhu PB, Soman D, Babitha V. Conjunctival melanosis with retinal vessel tortuosity: An unusual presentation of Sturge–Weber syndrome. Kerala J Ophthalmol [serial online] 2017 [cited 2021 Dec 7];29:226-9. Available from: http://www.kjophthal.com/text.asp?2017/29/3/226/224306

  Introduction Top

The ocular components of Sturge– Weber syndrome More Details (SWS) are glaucoma (70%) and vascular malformations of the conjunctiva/episclera (69%), choroid and retina (31%–71%).[1] Other ocular manifestations include retinal vascular tortuosity, iris heterochromia, retinal detachment, and strabismus.[1],[2],[3] Melanotic changes in the conjunctiva (conjunctival melanosis) is a rare association of SWS.

  Case Reports Top

Case 1

A 24-year-old male a known case of SWS came with redness increased watering from the left eye for 2 months. He gave a history of seizure disorder since childhood well controlled on phenytoin. On examination, he had port wine stain (PWS) involving the whole of his left half of the face [Figure 1]. Conjunctival and episcleral vessels of the left eye were dilated and tortuous. Upper palpebral conjunctival vessels of the right eye were telangiectatic. Superior limbus right eye (RE) showed an area of conjunctival melanosis. Anterior segment examination was within normal limits. Angles were open on gonioscopy. Uncorrected visual acuity was 6/6 both eyes. Intraocular pressure (IOP) readings were 21 mmHg right eye and 22 mmHg left eye. Fundus photo was taken which revealed dilated and tortuous retinal vessels both eyes [Figure 2]. Choroidal hemangioma and vascular malformations were absent. Diurnal variation test was positive with a significant evening rise in IOP in the left eye. He was started on anti-glaucoma measures. Visual fields were normal. His previously taken computed tomography and magnetic resonance imaging (MRI) scan of the head showed atrophy of the left hemisphere, leptomeningeal enhancement, left-sided choroid plexus enlargement, and enlargement of paranasal sinuses.
Figure 1: Case 1- Sturge–Weber syndrome with left side port wine stain and right conjunctival melanosis with palpebral telangiectasia

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Figure 2: Case 1 - dilated retinal vessels with spotted leak on FFA

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Case 2

A 10-year-old boy with SWS, history of seizures on phenytoin, already detected to have glaucoma both eyes on topical antiglaucoma medications came for routine follow-up [Figure 3]. He had PWS bilateral, right-sided hemihypertrophy, megalocornea, dilated and tortuous conjunctival, and episcleral vessels right eye, 360° conjunctival melanocytosis left eye and synorphism. He had bilateral glaucomatous deep cupping with abnormal vessels over the right optic nerve head. Retinal vessels were tortuous [Figure 4]. MRI revealed evidence of focal cortical atrophy, leptomeningeal enhancement, and right choroid plexus enlargement.
Figure 3: Case 2 - bilateral Sturge–Weber syndrome with left side conjunctival melanocytosis

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Figure 4: Case 2 - tortuous retinal vessels with glaucomatous cupping

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  Discussion Top

SWS is also known as encephalotrigeminal angiomatosis.[1] The disease spectrum includes leptomeningeal hemangioma, facial angiomatosis, and ocular pathological changes. It affects around 1:50,000 infants.[1],[2] Both genders are equally affected. It is usually unilateral. Bilaterality as in case 2 is a rarity.

SWS occur due to an impaired development of the cell precursors in the neural crest during the first trimester of gestation. This leads to the characteristic malformations observed in the central nervous system, skin, and eyes. The involvement of GNAQ and several genes in the 17p1-p13 region has been found in association with SWS. However, most cases are sporadic in inheritance.[4]

Diagnosis is clinical. The classical signs are unilateral facial PWS, hemiatrophy, progressive seizures, contralateral hemiparesis, mental retardation, hemianopia, and ipsilateral glaucoma. Even among those without overt neurological deficits or seizures neuroimaging often shows the presence of gyriform calcifications in the parietal and occipital lobes, leptomeningeal angiomatosis, and astrogliosis. When two of the three manifestations of the classic triad, i.e., leptomeningeal angioma, PWS, ocular abnormalities are evident, it is diagnostic of SWS. Based on the clinical manifestations, SWS is further classified into four types: (1) presence of brain and facial angioma, with or without glaucoma, (2) PWS without brain involvement, with or without glaucoma, (3) isolated brain angioma, usually without glaucoma, and (4) type 1 associated with systemic manifestation such as tuberous sclerosis.

When the vascular nevus is associated with cutaneous or mucosal pigmentary nevi, the entity is referred as phacomatosis pigmentovascularis (PPV).[5] It is a rare disease due to aberrant development of vasomotor nerves and melanocytes, both derived from neural crest. This explains the association between SWS and PPV. Isolated case reports of SWS with extensive pigmented nevi (Mongolian spots), oculodermal melanocytosis (nevus of Ota), and conjunctival melanocytosis have been described in literature. The exact etiology and pathogenesis behind overlap of these unique syndomes are not clear.[6] Trabecular hyperpigmentation and coexistant structural damage add on to the severity and bilaterality of glaucoma in such overlap syndromes.[7] Both of our SWS subjects had evidence of conjunctival melanosis suggesting overlap syndrome.

Ocular manifestations are seen in about 50% of the cases.[2],[3] They are seen on the side of PWS. PWS often involves the dermatome supplied by ophthalmic division of trigeminal nerve. Other findings are pinkish hue to the bulbar conjunctiva, episcleral vessel dilatation, vascular malformations in the trabecular meshwork, and choroidal hemangioma (localized or diffuse, diffuse being commoner). Structural changes in the angle of anterior chamber and trabecular meshwork results in slow and persistent rise in IOP (open angle glaucoma). Acute rise in IOP due to angle closure has also been reported. Glaucoma in a child with SWS is frequently associated with corneal changes, including haze, megalocornea, and buphthalmos. Bilateral glaucoma in case 2 might have been contributed by the melanotic changes in the limbus.

Subretinal hemorrhage, retinal degeneration, serous retinal detachment, cystoid macular edema, optic disc coloboma, and tortuous retinal vessels are the rarer features described in SWS. Tortuous retinal vessels were observed in both cases. Isolated retinal vascular tortuosity with conjunctival telangiectasia (case 1) is a less described finding.

The management involves primarily around seizure control, with surgical resection only if indicated rarely in refractory cases. Ophthalmological examination is essential to identify and treat ocular involvement.[8]

Routine slit lamp examination has got great significance in detecting the typical alterations observed in SWS. Fundus examination by indirect ophthalmoscopy or slit lamp biomicroscopy shows the typical features of choroidal hemangioma. Gonioscopy, IOP measurement, optic nerve evaluation as well as visual field testing are the main procedures to assess glaucoma status in SWS. In young individuals, parameters such as axial length and corneal diameter are important. The optic nerve head can be observed with optical coherence tomography which is a noninvasive and relatively rapid method of evaluation in children.

Ultrasound B-scan can detect choroidal alterations and is useful in evaluating their extension, characteristics, and echogenicity. Indocyanine green angiography can identify the extension of choroidal hemangioma, its intralesional vascularity and presence of hidden arteriovenous shunts.

Enhanced depth imaging spectral domain optical coherence tomography is a new modality which quantifies choroidal thickness, morphology and the caliber of dilated choroidal vessels. MRI may also be useful to detect broader thickening of the eyes as a result of diffuse choroidal hemangioma. It is crucial to plan complete ophthalmic examinations in the follow-up of SWS patients to avoid visual function loss, frequently related to progressive glaucoma, and also to detect the onset of retinal complications such as exudative detachment. Those with pigmented nevi should be regularly followed up for development of melanocytic tumors.

  Conclusion Top

SWS can present with retinal vascular tortuosity, conjunctival telangiectasia, and conjunctival melanosis. The evaluation, management and follow-up in cases with such varied presentations have to be tailor-made.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Mantelli F, Bruscolini A, La Cava M, Abdolrahimzadeh S, Lambiase A. Ocular manifestations of Sturge-Weber syndrome: Pathogenesis, diagnosis, and management. Clin Ophthalmol 2016;10:871-8.  Back to cited text no. 1
Bachur CD, Comi AM. Sturge-Weber syndrome. Curr Treat Options Neurol 2013;15:607-17.  Back to cited text no. 2
Patil B, Sinha G, Nayak B, Sharma R, Kumari S, Dada T. Bilateral Sturge-Weber and phakomatosis pigmentovascularis with glaucoma, an overlap syndrome. Case Rep Ophthalmol Med 2015;2015:106932.  Back to cited text no. 3
Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St. Onge J, et al. Mosaic activating mutations in GNA11 and GNAQ are associated with Phakomatosis Pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 2016;136:770-8.  Back to cited text no. 4
Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM, et al. Ophthalmic alterations in the Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis: An independent group of conditions? Biomed Res Int 2015;2015:786519.  Back to cited text no. 5
Saricaoglu MS, Güven D, Karakurt A, Sengun A, Ziraman I. An unusual case of Sturge-Weber syndrome in association with phakomatosis pigmentovascularis and Klippel-Trenaunay-Weber syndrome. Retina 2002;22:368-71.  Back to cited text no. 6
Finklea LB, Mohr MR, Warthan MM, Darrow DH, Williams JV. Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. Pediatr Dermatol 2010;27:303-5.  Back to cited text no. 7
Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: A review. Pediatr Neurol 2004;30:303-10.  Back to cited text no. 8


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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