Generalised nevus flammeus, episcleral capillary malformation and glaucoma

Abstract

DesCripTionA 35-year-old woman presented with no vision, redness, pain and photophobia in the left eye (LE) since 4 months. This was associated with left-sided headache and vomiting too. She had history of poor vision in LE since 2-3 years, and had been treated with topical antiglaucoma medication. There was no significant family history. On examination, visual acuity was 6/6 in right eye (RE) and no perception of light in LE. Intraocular pressure (IOP) was measured as 14 mm Hg in RE and >60 mm Hg in LE. Slit lamp evaluation revealed conjunctival congestion, corneal oedema, fully dilated pupil and white cataract in LE (figure 1). Gonioscopy was within normal limits. RE ocular examination did not reveal any significant anomaly. RE pupil did not show any consensual response, while LE pupil was fixed. Systemic workup revealed nevus flammeus (NF) over the face involving both periocular regions but more prominent on the left side. Further examination showed the NF to be present all over the body (trunk and limbs), and was more prominent over the left side. The capillary malformation was dark purple in colour and non-blanchable to external pressure. Plaque-like changes and underlying soft tissue hypertrophy were noticeable in some areas (figure 1). No other pigmentary changes were seen. On closer ocular examination, the episcleral capillaries around the limbus were found to be engorged, with telangiectasia and focal bulbous dilations (figure 1).The patient was diagnosed to have a generalised NF with end-stage glaucoma in LE. Hyperosmotic agents and oral acetazolamide were advised while the systemic workup proceeded. Ultrasound of the LE revealed an anechoic vitreous cavity and no signs of choroidal tumours. No anomalies were detected on radioimaging of head, chest and abdomen. She was also evaluated by a dermatologist, physician and gynaecologist, but no other systemic anomalies were found. A 270° transconjunctival cryoablation of the ciliary body was done, and 15 days following the procedure the IOP was 18 mm Hg on a topical combination of dorzolamide and timolol. As the patient was asymptomatic only on topical medication, further surgical interventions were deferred.