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Ophthalmic Images
November 10, 2016

Novel Macular Findings on Optical Coherence Tomography in Incontinentia Pigmenti

Author Affiliations
  • 1Casey Eye Institute, Oregon Health & Science University, Portland
JAMA Ophthalmol. 2016;134(11):e162751. doi:10.1001/jamaophthalmol.2016.2751

Incontinentia pigmenti (IP) is a rare, X-linked disease with ophthalmic findings in 35% to 77% of cases.1-4 Classic retinal manifestations include peripheral retinal ischemia and subsequent sequelae, but phenotypic presentations are myriad.1-4 Foveal hypoplasia is a known manifestation of IP, and foveal architectural abnormalities in older children have recently been described on optical coherence tomography (OCT).1,5 In the present case, a 3-week-old girl with IP was referred after being noted to have a vitreous hemorrhage on ophthalmic screening examination. Clinical examination revealed bilateral peripheral retinal neovascularization and associated preretinal hemorrhage. Following examination and all imaging (Figure), laser photocoagulation was performed to the ischemic peripheral retina in both eyes. This case demonstrates a broader range and earlier presentation of macular findings on OCT associated with IP than has been reported previously, to our knowledge. Foveal hemorrhage and cystoid macular edema may have implications for the foveal development in these children.

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