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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 his-tory. 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 detach-ment 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 inter-face due to her condition of incontinentia pigmenti.

Four months after being seen in the clinic, she attended the eye emergency clinic for visual distur-bance 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 pos-terior hyaloid just before the equatorial retinal periph-ery. Two iatrogenic breaks were created at the edge of the dissection. The retina was flattened and tamponad-ed 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 encir-cling band and laser retinopexy. Since then, she has developed posterior subcapsular opacification in her right lens, and she has been listed for phacoemulsifica-tion and posterior capsulectomy.

DISCUSSIONIncontinentia pigmenti is a multisystem disease

with a variable expression. It is of an x-linked domi-nant 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

BY YEW CHONG YAP, FRCOphth; ATUL SHAH, FRCOphth; AND ROLAND LING, FRCOphth

Case Report: Retinal Detachment in a Patient With Incontinentia Pigmenti

Figure 1. OCT scan of the right eye, showing a walled-off reti-

nal detachment with macula on.

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described by Bloch in 1926, who noted abnormalities in the pigment cells of epithelium. The pigment, which usually desquamates upward, is not retained by mela-noblasts but accumulates in the chromatophores.2

Thirty-five percent of affected patients have ocular involvement. The most common intraocular patholo-gies 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 chang-es, 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 caus-

ing incontinentia pigmenti, NEMO (NF-kappa-B essen-tial 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 vasoprolifera-tion 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

Figure 2. OCT scan of the right eye showing the extent of the

detachment close to the fovea.

Figure 4. Postoperative color fundus photograph shows

retinotomy scar and dragged right optic disc.

Figure 3. Postoperative OCT scan of the right eye shows

attached retina.

Figure 5. Postoperative photograph shows the encirclement

and laser retinopexy scars in the right eye.

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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 modali-ties 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 pig-menti, 6 eyes developed tractional retinal detachment. The retinal detachments were described as nonrheg-matogenous, 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 vitrec-tomy 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. n

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.

1. François J. Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes. Br J Ophthalmol. 1984;68(1):19-25.2. Jain RB, Willetts GS. Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. Br J Ophthalmol. 1978;62(9):622-626.3. Heathcote JG, Schoales BA, Willis NR. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. Can J Ophthalmol. 1991;26(4):229-237.4. Brown CA. Incontinentia pigmenti: the development of pseudoglioma. Br J Ophthalmol. 1988;72(6):452-455.5. Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet. 2001;10(19):2171-2179.6. Rosenfeld SI, Smith ME. Ocular findings in incontinentia pigmenti. Ophthalmology. 1985;92(4):543-546.7. Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. 1993;100(11):1645-1654.8. Goldberg MF. The blinding mechanisms of incontinentia pigmenti. Ophthalmic Genet. 1994;15(2):69-76.9. Watzke RC, Stevens TS, Carney RG Jr. Retinal vascular changes of incontinentia pigmenti. Arch Ophthalmol. 1976;94(5):743-746.10. Wald KJ, Mehta MC, Katsumi O, Sabates NR, Hirose T. Retinal detachments in incontinentia pigmenti. Arch Ophthalmol. 1993;111(5):614-617. 11. Rahi J, Hungerford J. Early diagnosis of the retinopathy of incontinentia pigmenti: successful treatment by cryotherapy. Br J Ophthalmol. 1990;74(6):377-379.12. Lin KL, Hirose T, Kroll AJ, Lou PL, Ryan EA. Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition. Semin Ophthalmol. 2009;24(2):70-76.

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