Phakomatosis Ceisoflammea with glaucoma

A 14-year-old girl presented to us with bilateral nevus of Ota, unilateral nevus of Ito, and type 2 Sturge–Weber syndrome on the right side. The right eye (RE) showed inferior dystopia, proptosis, exotropia, megalocornea, and an intraocular pressure (IOP) of 40 mmHg [Fig. 1a and b]. IOP of the left eye was normal, and a gonioscopy of both eyes revealed hyperpigmentation of posterior trabecular meshwork. Despite medical management with the combination of topical timolol and topical dorzolamide, a persistently high IOP in RE was managed with trabeculectomy and was followed by diode cyclophotocoagulation (dCPC) after 1.5 years due to refractory IOP control. Three years after the first trabeculectomy, a failed bleb with high IOP was observed, and a repeat trabeculectomy followed by dCPC was done. Six years later, the patient developed a cystic bleb leak and underwent bleb revision and scleral patch graft [Fig. 1c].Figure 1: Phakomatosis ceisoflammea with glaucoma and bleb leak. (a) Bilateral nevus of Ota and right-sided port-wine stain over the V1 and V2 distributions of the trigeminal nerve. Right eye, showing proptosis, exotropia, inferior dystopia, and megalocornea. (b) Left eye, circumferential nevus of Ota. (c) Right eye, showing nevus of Ota involving the sclera circumferentially and cystic bleb leakPhakomatosis pigmentovascularis (PPV) is the association of pigmentary nevi with cutaneous vascular malformations.[1] Currently, it is classified into three subtypes, with our case being subtype IIa, known as "phakomatosis ceisoflammea."[2] Although the etiopathogenesis is complex, recently, GNAQ mutations have been demonstrated in these cases. GNAQ mutations are responsible for an increase in the differentiation of neural crest cells to form melanoblasts.[3] Ocular abnormalities include glaucoma, uveal melanoma, and choroidal hemangioma.[4] Our patient had glaucoma alone. In congenital forms, usually, goniotomy or trabeculotomy becomes the first-line treatment where initial IOP reduction is usually achieved with carbonic anhydrase inhibitors and timolol. Trabeculectomy becomes the next treatment option in the deck when prior options fail. The sequence of the treatment modalities employed in this case followed a similar pattern.[5] Our patient developed a cystic bleb leak, which was successfully repaired with a scleral patch graft, and a stable IOP profile was achieved. 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: Nil. Conflicts of interest: There are no conflicts of interest.