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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 1  |  Page : 111-113

A rare case of phacomatosis pigmento vascularis with glaucoma in an Indian child: Management with review of literature

Department of Pediatric Ophthalmology and Strabismus, Children Eye Care Center, Sadguru Netra Chikitsalya and Postgraduate Institute of Ophthalmology, Chitrakoot, Madhya Pradesh, India

Date of Submission08-Jun-2020
Date of Acceptance20-Jul-2020
Date of Web Publication31-Dec-2020

Correspondence Address:
Dr. Chintan Shah
Department of Pediatric Ophthalmology and Strabismus, Children Eye Care Center, Sadguru Netra Chikitsalya and Postgraduate Institute of Ophthalmology, Jankikund, Chitrakoot, Madhya Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1816_20

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We present a rare case of phacomatosis pigmentovascularis in a 6-year-old child. The child had one functioning eye with severe glaucoma at presentation. We managed the case with primary Ahmed glaucoma valve implantation followed by two needling attempts. After 3 years of follow-up, the intraocular pressure was well maintained with the addition of two antiglaucoma medications.

Keywords: Ahmed glaucoma valve, case report, pediatric glaucoma, phacomatosis pigmentovascularis, Sturge Weber syndrome

How to cite this article:
Shah C, Sen P, Jain R, Sood D, Mohan A, Jain E. A rare case of phacomatosis pigmento vascularis with glaucoma in an Indian child: Management with review of literature. Indian J Ophthalmol Case Rep 2021;1:111-3

How to cite this URL:
Shah C, Sen P, Jain R, Sood D, Mohan A, Jain E. A rare case of phacomatosis pigmento vascularis with glaucoma in an Indian child: Management with review of literature. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Feb 26];1:111-3. Available from: https://www.ijoreports.in/text.asp?2021/1/1/111/305510

Phacomatosis pigmentovascularis (PPV), Sturge  Weber syndrome More Details (SWS), and Klippel Trenuanay Weber Syndrome (KTW) are cutaneous and vascular malformations, often associated with glaucoma (30%–50%).[1] Around 200 cases of PPV have been reported, and only few of them have described the glaucoma management.[2] Both the medical and surgical treatment has been unsatisfactory as compared to primary congenital glaucoma. Filtering surgery is usually the first line of management.[3] Here, we are reporting a long-term follow-up case of PPV successfully managed by Ahmed glaucoma valve (AGV) implantation. An informed written consent was obtained from the patient's guardian to publish the case report and photographs. Ethical clearance was also obtained regarding the same.

  Case Report Top

A 6-year-old boy presented with diminution of vision in both eyes since 6 months associated with pain and redness. There was no history of any other ocular and systemic disease or prior consultation elsewhere.

Ocular features

Patient could count fingers from a distance of 2 m with his right eye, while the left eye could not detect light.

His right eye had nevus of Ota and the horizontal corneal diameter was 13 mm. Iris was hyperpigmented with loss of characteristic pattern. Fundus showed signs of glaucomatous damage with the cup-disc ratio of 0.8:1. The peripheral retina appeared normal without any choroidal lesions. Left eye was exotropic and also showed nevus of Ota. Corneal haze and limbal vascularization was noted. Fundus was not visible due to presence of complicated cataract [Figure 1].
Figure 1: Anterior segment images; (a) Right eye- arrow showing nevus of Ota, (b) Right eye- arrow showing AGV in situ, (c)- Left eye- complicated cataract, arrow showing the nevus of Ota

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Intraocular pressure (IOP) in the right eye was 44 mm Hg on Goldmann applanation tonometry. Left eye IOP could not be measured due to hypotony. Gonioscopy revealed open angles, with increased pigmentation and high insertion of iris in the right eye.

Systemic features

The patient had well defined erythematous to purple patches covering cheeks, nose and forehead giving impression of a port wine stain (PWS) or nevus flammeus. Hypopigmented macules coalescing into patches were seen over neck, trunk and extremities suggestive of nevus anemicus. These lesions were non progressive and present since birth [Figure 2].
Figure 2: Black arrows representing characteristic skin lesions; (a) Port wine stain involving cheeks and nose, and nevus anemicus involving (b)- Shoulder, (c) Arm, (d) Legs

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B scan ultrasonography showed close funnel retinal detachment (RD) with cystic changes in the left eye. Magnetic resonance imaging (MRI) of brain was normal. We came to a diagnosis of Phacomatosis Pigmento Vascularis (PPV) cesioflammea with secondary glaucoma in the right eye.


Patient was prescribed maximum tolerable antiglaucoma medications (AGM). But even after 3 days, IOP could be reduced to 38 mmHg only. The child underwent AGV FP8 implantation under general anesthesia. After 1 month, an encysted bleb was noticed with IOP of 25 mm Hg. Two consecutive needling with 5-fluorouracil were performed at 1-month interval. IOP was 18 mm Hg 1 month after the second needling procedure. Considering severe damage to the optic nerve, Timolol (0.5%) eyedrop BID was prescribed. After 1 year, IOP was elevated to 20-22 mmHg on two consecutive visits. Patient was then started with combination eyedrop Dorzolamide (2%) + Timolol (0.5%) BID. At the last follow-up after 3 years; the vision improved to 20/80 (-6.0 -1.50 × 90), and IOP was 15 mmHg. The treatment was continued and a 3 monthly follow-up was suggested.

  Discussion Top

PPV is a rare neural crest disorder due to abnormal vasomotor nerve cells and melanocytes. It is characterized by a cutaneous vascular malformation such as PWS and pigmentary nevi since birth.[2] Happle classified PPV into three types: phacomatosis cesioflammea-commonest type (older classification PPV IIa/b), phacomatosis spilorosea (IIa/b), phacomatosis cesiomarmorata (Va/b), and an unclassified group (PPV IVa/b).[4]

PPV, SWS, and KTW are same spectrum disorders with various overlapping features.[2],[5] SWS is a neurocutaneous syndrome characterized by congenital PWS and neurological abnormalities.[1] KTW is characterized by PWS, varicose veins, soft tissue and bony hypertrophy.[5] MRI of the brain is important in such cases to detect leptomeningeal involvement, cerebral calcifications, atrophy, which is usually seen in SWS. Malformed anterior chamber angle and/or high episcleral venous pressure may be responsible for development of glaucoma in phacomatosis.[6] There is no consensus regarding glaucoma management due to its uncommon occurrence.

Akash et al.[1] reported the extracutaneous manifestations of PPV along with a literature review of 176 cases. Incidence of glaucoma was 35% in PPV cesioflammea and cesiomarmorata. A strong predisposition for glaucoma was noticed when oculodermal melanocytosis and nevus flammeus were present together. Also, eyes close to PWS-affected areas had a higher incidence of glaucoma. Our patient also had similar risk factors, e.g., scleral melanocytosis, hyperpigmentation of angle structures, and bilateral PWS.

Related case reports in the literature are enlisted in [Table 1].
Table 1: Review of previously published case reports of PPV along with present case for comparison

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Some of the earliest case series with a large number of cases have not mentioned glaucoma management.[7] Trabeculectomy alone or with trabeculotomy has been the preferred surgery in PPV cases, although failure is not uncommon.[3],[8] Glaucoma is often refractory in nature requiring multiple surgeries over long term.[3] AGV has shown better results for refractory glaucoma cases than augmented trabeculectomy.[9] Kaushik et al. did primary AGV implantation in 24 eyes of SWS with reported success of 75% after a mean follow-up of 2.1 years.[9] Role of primary AGV implantation in PPV per se has not been mentioned.

In our case, medications could not control the IOP and thus surgery was required. Patient had severe glaucomatous damage with one functioning eye. AGV implantation could be safely performed without any complications. We prefer FP8 implant in young children to avoid overcrowding of the structures. However, needling had to be performed twice. Eventually pressure could be controlled and maintained below 21 mm of Hg. AGM were added to further reduce the IOP considering severe glaucomatous damage.

  Conclusion Top

To conclude, a detailed ocular and systemic evaluation is essential in patients having PWS to avoid vision and life threatening sequelae. Glaucoma is often refractory and multiple surgical interventions may be required. Aqueous drainage devices like AGV can be considered as an alternative to trabeculectomy in such cases. Needling if required should be done early to achieve long term success.


The authors acknowledge the contribution of Dr. Shreya Hajari (DDVL) in diagnosing the dermatological condition of the patient.

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

Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MR, Grove ME, et al. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. Am J Med Genet A 2019;179:966-77.  Back to cited text no. 1
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. doi: 10.1155/2015/106932.  Back to cited text no. 2
Sood D, Rathore A, Sood I, Kumar D, Sood NN. Long-term intraocular pressure after combined trabeculotomy-trabeculectomy in glaucoma associated with Sturge-Weber syndrome. Eur J Ophthalmol 2018;28:210-5.  Back to cited text no. 3
Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 2005;141:385-8.  Back to cited text no. 4
Singh K, Dangda S, Mutreja A, Bhattacharyya M, Jaisingh K. Bilateral phacomatosis pigmentovascularis in a young male with developmental glaucoma and varicose veins. J Curr Glaucoma Pract 2018;12:94-8.  Back to cited text no. 5
Weiss DI. Dual origin of glaucoma in encephalotrigeminal haemangiomatosis. Trans Ophthalmol Soc UK 1973;93:477-93.  Back to cited text no. 6
Teekhasaenee C, Ritch R. Glaucoma in phakomatosis pigmentovascularis. Ophthalmology 1997;104:150-7.  Back to cited text no. 7
Gupta A, Dubey S, Agarwal M. A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. J AAPOS 2007;11:398-9.  Back to cited text no. 8
Kaushik J, Parihar JKS, Jain VK, Mathur V. Ahmed valve implantation in childhood glaucoma associated with Sturge-Weber syndrome: Our experience. Eye (Lond) 2019;33:464-8.  Back to cited text no. 9
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.  Back to cited text no. 10


  [Figure 1], [Figure 2]

  [Table 1]


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