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Katherine Elizabeth Talcott, Shizuo Mukai; Phenotypic variability and utility of red-free and wide-field autofluorescence imaging in incontinentia pigmenti patients.. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):399.
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Incontinentia pigmenti (IP) is a rare syndrome with ocular manifestations including peripheral retinal telangiectasias, avascular zones, and neovascularization (NV). Fluorescein angiography (FA) is the current gold standard in diagnosing and guiding treatment. This study assesses retinal phenotypic variability in IP and evaluates the utility of red-free and wide-field autofluorescence (AF) imaging as an adjuvant to FA.
Consecutive, retrospective case series of IP patients with retinal involvement seen between 2007 and 2014.
Seven IP patients (median age 5 months at initial exam) were followed longitudinally. All patients had skin changes while neurologic manifestations (29%), family history (29%), and known NEMO mutations (14%) were less common. 13 eyes (one eye had total retinal detachment) underwent 30 imaging sessions, including 28 FA. All eyes had peripheral avascular retinal zones and 12 eyes had vessel tortuosity and retinal telangiectasias. 6 eyes had active NV on FA that was treated with laser (100%) and intravitreal bevacizumab (17%). 2 eyes with NV also had development abnormalities—one had residual anterior tunica vasculosa lentis, optic atrophy, and hypoplastic fovea with extensive retinal avascularity and posterior NV stabilized with serial bevacizumab injections and laser while another had optic nerve misdevelopment with extensive NV treated with laser. 17 FA were accompanied by RetCam red-free imaging and 4 by Optos AF imaging. Peripheral avascular zones, vessel tortuosity, and telangiectasias were detectable on all images. However, vitreous hemorrhage or NV was only seen in a minority (11% of red-free images, 50% of AF images).
Among IP patients with known retinal involvement, there is a high incidence of NV that can be managed with serial FAs, laser and intravitreal bevacizumab. While FA is superior for surveillance of active NV, obtaining red-free or AF images from retinal periphery may identify avascular zones, vessel tortuosity and telangiectasias without the need for fluorescein administration in young patients.
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