A 36-year-old woman first presented to our clinic with floaters in the right eye for 6 weeks. She had been seen previously by a geneticist who diagnosed incontinentia pigmenti. Her left eye was amblyopic from surgery performed when she was 5 years old for a condition that was unclear in her history. On examination, visual acuity was 20/20 in the right eye and 20/120 in the left eye. Right eye funduscopy revealed a circular area of walled-off retinal detachment in the superotemporal retinal periphery of the eye with associated lattice changes in the superonasal retinal periphery. In the left eye she was found to have an epiretinal membrane causing pucker and an area of chronic walled-off tractional detachment inferonasal to the optic disc. She had an abnormal vitreoretinal interface due to her condition of incontinentia pigmenti.

Four months after being seen in the clinic, she attended the eye emergency clinic for visual disturbance with a C-shaped shadow around her central vision. Retinal examination of the right eye showed contraction of adherent posterior hyaloid causing localized posterior pole tractional retinal detachment surrounding the vascular arcade. Her right macula was attached with visual acuity of 20/25 (Figures 1 and 2). She underwent vitrectomy with separation of the posterior hyaloid just before the equatorial retinal periphery. Two iatrogenic breaks were created at the edge of the dissection. The retina was flattened and tamponaded with silicone oil. Postoperative unaided visual acuity was 20/40 (Figures 3–5).

Five months later she underwent an encircling band procedure with removal of silicone oil, 360º of peripheral laser, and gas tamponade with 20% C2F6. Intraoperatively, she was found to have some areas of proliferation behind the silicone oil on the inferior retinal surface, and these were supported with an encircling band and laser retinopexy. Since then, she has developed posterior subcapsular opacification in her right lens, and she has been listed for phacoemulsification and posterior capsulectomy.

DISCUSSION

Incontinentia pigmenti is a multisystem disease with a variable expression. It is of an x-linked dominant inheritance and is lethal in the male fetus. It is an oculo-dento-cerebro-cutaneous syndrome or an ecto- and mesodermal dysplastic syndrome.1 It has also been known as Bloch-Sulzberger syndrome. It was first described by Bloch in 1926, who noted abnormalities in the pigment cells of epithelium. The pigment, which usually desquamates upward, is not retained by melanoblasts but accumulates in the chromatophores.2

Thirty-five percent of affected patients have ocular involvement. The most common intraocular pathologies detected in affected patients include retinal detachment and fibrovascular retrolental membrane.3 More complicated ocular involvements include retinal detachment, pseudoglioma, optic atrophy, cataract, microphthalmos, and phthisis bulbi, and milder cases include exudative choroiditis, peripheral retinal changes, nystagmus, strabismus, and myopia. Brown reported a case of bilateral pseudoglioma in which the affected infant went from having a normal retina at 7 days after birth to total blindness in 3 months.4

Studies have shown that mutations in the gene causing incontinentia pigmenti, NEMO (NF-kappa-B essential modulator), which is mapped to Xq28, may also affect angiogenesis.5 Most authors agree that it affects the retinal vessels, but some have suggested that it also involves the retinal pigment epithelium.6 Goldberg reported changes in retinal vessels and documented foveal hypoplasia.7 Anomalies of the vasculature in the peripheral retina are seen in affected patients. Ischemia of the sensory retina with subsequent vasoproliferation leads to retinal detachment.8 Fundus fluorescein angiography in these patients reveals an absence of perfusion in areas of the temporal peripheral retina, beyond zones of leaking anastomotic vessels and neovascularization.9

Wald et al noted the similarity of the retinopathy in incontinentia pigmenti to that of retinopathy of prematurity (ROP) and suggested that peripheral retinal ablation, as proposed by the Cryotherapy for ROP Cooperative Group, may be beneficial.10 Rahi and Hungerford described the success of cryotherapy in preventing progression of retinopathy in a patient with incontinentia pigmenti.11 Since then, treatment modalities have included panretinal photocoagulation, scleral buckling, and vitrectomy. Even anti-VEGF injections have been included in the treatment of such patients.12

In a case series from the Schepens Eye Research Institute, in 4 female patients with incontinentia pigmenti, 6 eyes developed tractional retinal detachment. The retinal detachments were described as nonrhegmatogenous, with extensive preretinal and vitreous fibrous organization pulling the retina behind the lens. Repair of the retinal detachment was done in 3 eyes with vitrectomy and scleral buckle. Open-sky vitrectomy was performed in both eyes of 1 of the 3 patients with severe late end-stage retinal detachment. This resulted in partial retinal reattachment in 1 of the eyes with resulting useful postoperative visual acuity. Trans-pars plicata vitrectomy and membranectomy were performed in patients with less severe tractional retinal detachment with good outcome.

Yew Chong Yap, FRCOphth, practices in the Department of Ophthalmology at the James Paget University Hospital in Great Yarmouth, Norfolk, United Kingdom. Dr. Yap may be reached at eyapyc@gmail.com.

Atul Shah, FRCOphth, practices in the West of England Eye Unit, Royal Devon and Exeter Hospital, United Kingdom. Dr. Shah may be reached at abmshah@gmail.com.

Roland Ling, FRCOphth, practices in the West of England Eye Unit, Royal Devon and Exeter Hospital, United Kingdom. Dr. Ling may be reached at roland.ling@rdeft.nhs.uk.

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