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. Author manuscript; available in PMC: 2021 Feb 12.
Published in final edited form as: JAMA Ophthalmol. 2016 Nov 10;134(11):e162751. doi: 10.1001/jamaophthalmol.2016.2751

Novel Macular Findings on Optical Coherence Tomography in Incontinentia Pigmenti

Scott M McClintic 1, Lorri B Wilson 1, J Peter Campbell 1
PMCID: PMC7880607  NIHMSID: NIHMS1666101  PMID: 27832283

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.

Figure.

Figure.

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Spectral-domain optical coherence tomography imaging shows bilateral inner nuclear layer cystic spaces (white arrowheads). A, The right fovea is hypoplastic with persistance of the inner retinal layers. B, Hyperreflectivity in the left fovea corresponds to the intraretinal hemorrhage (black arrowhead).

Footnotes

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr McClintic was supported by National Institutes of Health P30 grant EY010572 and an unrestricted grant from Research to Prevent Blindness. No other disclosures were reported.

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