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Year : 2020  |  Volume : 58  |  Issue : 4  |  Page : 310-312

Double whammy: Congenital glaucoma in phakomatosis pigmentovascularis with Sturge–Weber syndrome and nevus of Ota

Orbit, Oculoplasty, Reconstructive & Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India

Date of Submission20-May-2020
Date of Acceptance20-Jul-2020
Date of Web Publication16-Dec-2020

Correspondence Address:
Dr. Bipasha Mukherjee
Sankara Nethralaya, Medical Research Foundation, 18, College Road, Chennai - 600 006, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjosr.tjosr_59_20

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Phakomatosis pigmentovascularis (PPV) is a rare congenital condition characterized by a combination of cutaneous capillary hemangiomas and dermal melanocytosis. The dual presentation of Sturge–Weber syndrome (SWS) and nevus of Ota in the same patient is a rare finding. Individually, both these conditions can predispose to developmental glaucoma. The combined presentation of these two predisposing conditions has a very high chance of coexisting glaucoma. We report a patient of PPV presenting with bilateral SWS, nevus of Ota, and congenital glaucoma.

Keywords: Congenital glaucoma, nevus of Ota, phakomatosis pigmentovascularis, Sturge–Weber syndrome

How to cite this article:
Podury S, Mukherjee B. Double whammy: Congenital glaucoma in phakomatosis pigmentovascularis with Sturge–Weber syndrome and nevus of Ota. TNOA J Ophthalmic Sci Res 2020;58:310-2

How to cite this URL:
Podury S, Mukherjee B. Double whammy: Congenital glaucoma in phakomatosis pigmentovascularis with Sturge–Weber syndrome and nevus of Ota. TNOA J Ophthalmic Sci Res [serial online] 2020 [cited 2022 Nov 29];58:310-2. Available from: https://www.tnoajosr.com/text.asp?2020/58/4/310/303650

  Introduction Top

Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation presenting with capillary malformations and dermal melanocytosis. Sturge– Weber syndrome More Details (SWS) is a neuro-oculo-cutaneous disorder. Ocular involvement is seen in the form of glaucoma, vascular malformations of the conjunctiva, episclera, choroid, and retina.[1] PPV presenting with SWS, nevus of Ota, and congenital glaucoma is rare.[2] We report a case presenting with the above entities.

  Case Report Top

A 4-year-old male child presented to our institute, with the chief complaints of decreased vision in the right eye for duration of 1 year and photophobia for 5 months. The child was diagnosed elsewhere with congenital glaucoma and had undergone glaucoma filtration surgery at 4 months of age. He was born of a nonconsanguineous marriage with normal antenatal and birth history. The child was of normal intelligence for his age. Distance vision at presentation was 3/60 in the right eye and 6/18 (Snellen) in the left eye. External examination showed the presence of an erythematous lesion involving both sides of the face, suggestive of nevus flammeus. On slit lamp examination, the right eye showed a thin, diffuse bleb, scleral thinning, nevus of Ota, megalocornea with Haab's striae, deep anterior chamber, a surgical peripheral iridectomy, and a clear crystalline lens. The left eye also showed a nevus of Ota, and rest of the anterior-segment examination was unremarkable. Fundus examination was normal in both eyes. A provisional diagnosis of bilateral SWS with megalocornea and nevus of Ota of the right eye was made. Neuroimaging and examination under anesthesia were recommended, but the child was lost to follow-up.

The patient returned at 18 years of age with complaints of diminished vision in the right eye and pain. On vision examination, the right eye vision was no perception of light with a fixed and mid-dilated pupil. The left eye vision was 6/6, N6. External examination revealed the presence of a port wine stain of the face. Slit lamp examination of the right eye demonstrated the presence of a thin, diffuse bleb, scleral thinning, megalocornea with band-shaped keratopathy, Haab's striae, corneal vascularization, peripheral iridectomy, and advanced cataract. Left eye anterior-segment findings were normal, except conjunctival pigmentation [Figure 1]a. Intraocular pressure (IOP) in the left eye by Goldmann applanation tonometry was 24 mmHg. The IOP in the right eye was nonrecordable. Gonioscopic evaluation of the left eye showed open angles. Fundus examination of the right eye had no view due to the cataract while that of the left eye showed a vertically oval disc with a deep cup, 0.8:1 VCDR, and thinning of neuroretinal rim. Pachymetry of the left eye was normal while that of the right eye was deferred in view of the painful blind eye and band keratopathy. He was advised Humphrey visual fields which he deferred due to logistics. Neuroimaging done elsewhere was normal. Enucleation of the right eye was recommended, and pressure-lowering eye drops were prescribed for the left eye. The patient underwent right eye enucleation with porous polyethylene implant. The enucleated globe did not show any vascular malformation on histopathological examination. On follow-up visit, the left eye IOP was controlled with pressure-lowering eye drops. The right eye with the custom ocular prosthesis showed mild pseudoptosis, but the patient was satisfied with his cosmesis [Figure 1]b. The patient was counseled about the importance of regular ophthalmic examinations and the use of protective glasses.
Figure 1: (a) Left eye showing the presence of nevus of Ota. (b) The right prosthetic eye showing good color match with pseudoptosis. Nevus flammeus is present on both sides of the face

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  Discussion Top

SWS is an encephalotrigeminal angiomatosis characterized by the presence of leptomeningeal hemangioma, facial angioma (nevus flammeus), and ocular changes. SWS is of three types: type I – facial and leptomeningeal angioma ± glaucoma (classic SWS); type II – facial angioma alone ± glaucoma, and Type III – leptomeningeal angioma.[3] The patient presented has Type II SWS. Glaucoma in SWS may be congenital or developmental and is secondary to anterior-chamber malformations, raised episcleral venous pressure, and changes in the ocular hemodynamics.[4]

Nevus of Ota is a hamartoma of dermal melanocytes which presents with permanent, homogenous, bluish gray or brown lesion limited to an area innervated by the first or second division of the trigeminal nerve usually seen on the face and the conjunctiva. The abnormal pigmentation at the anterior angle caused by ocular hyperpigmentation can mechanically block the outflow of aqueous humor causing glaucoma.[5] Teekhasaenee et al. suggest extensive angioma and melanocytosis involving the globe as a strong predisposition for elevated IOP.[6]

PPV is characterized by the presence of cutaneous hemangioma and pigmentary nevi. It was first described by Ota.[7] Hasegawa and Yasuhara provided the initial classification for PPV,[8] which was modified and simplified by Happle.[9]

The underlying mechanism for SWS and port wine stains may be due to the somatic mutations of GNAQ (guanine nucleotide binding protein [G protein], q polypeptide) gene. Activating GNAQ mutations have also been identified in extensive nevi of Ota and uveal melanoma.

SWS, blue nevi, nevi of Ota, and uveal melanoma have all been reported in association with PPV.[10]

Immunohistochemical studies have demonstrated the presence of perivascular nerves in the port wine stains associated with PPV, thus postulating disorder of the vasomotor nerves and abnormal melanocytes derived from embryonal neural crest to be responsible for the pigmentary and vascular nevi.[11]

The treatment and prognosis of PPV depend upon the affected organs. For cutaneous lesions, a combined laser including Q-switched alexandrite laser for pigmented lesions and pulsed-dye laser for vascular lesions has been recommended.[12]

Most common ocular pathology encountered with this condition is elevated IOP which must be controlled with pressure-lowering medications and regular monitoring, with visual field examination being recommended. Cases where the IOP is not controlled with the pressure lowering medications or the visual field shows continuous deterioration despite maximum medical therapy, filtration surgery may be advisable.

PPV with SWS, nevus of Ota, and congenital glaucoma is a rare presentation with unique challenges in the management. Since both SWS and nevus of Ota individually predispose to glaucoma, it was not an unexpected finding in this patient. The patient lost vision in one eye and developed advanced cupping in the other due to improper management and irregular follow-up. Hence, it is imperative for the ophthalmologists to recognize patients of PPV. These patients need aggressive treatment with antiglaucoma measures to preserve vision.

Declaration of patient consent

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

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus 1992;29:349-56.  Back to cited text no. 1
Yang Y, Guo X, Xu J, Ye Y, Liu X, Yu M. Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma. Medicine (Baltimore). 2015;94:e1025. doi:10.1097/MD.0000000000001025.  Back to cited text no. 2
Bodensteiner JB, Roach ES. Sturge-Weber syndrome. Mt. Mt. Freedom, NJ: Sturge-Weber Foundation; 1999.  Back to cited text no. 3
Lee CW, Choi DY, Oh YG, Yoon HS, Kim JD. An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber Syndrome and phakomatosis pigmentovascularis. J Korean Med Sci 2005;20:1082-4.  Back to cited text no. 4
Teekhasaenee C, Ritch R, Rutnin U, Leelawongs N. Glaucoma in oculodermalmelanocytosis. Ophthalmology 1990;97:562-70.  Back to cited text no. 5
Teekhasaenee C, Ritch R. Glaucoma in phakomatosis pigmentovascularis. Ophthalmology 1997;104:150-7.  Back to cited text no. 6
Ota N. Phakomatosis pigmentovsacularis. Jpn J Dermatol 1947;57:1-3.  Back to cited text no. 7
Hasegawa Y, Yasuhara M. Phakomatosis pigmentovascularis type IVa. Arch Dermatol 1985;121:651-5.  Back to cited text no. 8
Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 2005;141:385-8.  Back to cited text no. 9
Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ. Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature. J Am Acad Dermatol 2008;58:88-93.  Back to cited text no. 10
Recupero SM, Abdolrahimzadeh S, De Dominicis M, Mollo R. Sturge-Weber syndrome associated with naevus of Ota. Eye (Lond) 1998;12(Pt 2):212.  Back to cited text no. 11
Kono T, Erçöçen AR, Chan HH, Kikuchi Y, Hori K, Uezono S, et al. Treatment of phacomatosis pigmentovascularis: A combined multiple laser approach. Dermatol Surg 2003;29:642-6.  Back to cited text no. 12


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