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Connie Chen, Ian Han, Morton F Goldberg; Characterizing the Natural History of Retinopathy in Incontinentia Pigmenti. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5912.
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Incontinentia pigmenti is an X-linked dominant condition characterized by peripheral non-perfusion, peripheral retinal neovascularization and macular ischemia. We characterize the natural history of peripheral retinopathy and macular ischemia in incontinentia pigmenti, which until present has been poorly understood.
Patients diagnosed with incontinentia pigmenti by genetic testing or clinical exam were followed with serial examinations. Retinal drawings, fluorescein angiograms, and color fundus photographs were compared over time to evaluate for progression or regression of retinal disease.
A total of 11 patients (22 eyes) were enrolled in the study. Follow up ranged from 21 months to 23 years. Twelve of the 22 eyes (55%) had peripheral non-perfusion and 7 of 22 eyes (32%) had peripheral retinal neovascularization on initial examination. Three eyes received prophylactic ablative therapy for peripheral non-perfusion, and 19 eyes did not receive any prophylactic therapy. Of the 19 eyes that did not receive prophylactic ablative therapy, 18 eyes had stable neovascularization, spontaneous regression or absence of disease in follow up. In one eye, there was remodeling of the peripheral vasculature over time and spontaneous regression of retinal neovascularization 16 years later. Macular ischemia was seen in 5 eyes (23%) and remained stable in follow up examinations in all instances. No new cases of macular ischemia were identified in follow up. Of the 19 eyes that did not receive prophylactic ablative therapy, three eyes developed retinal detachment. One eye developed combined rhegmatogenous and traction retinal detachment after profound ischemia from branch artery occlusion and vein occlusion in the posterior pole. Two eyes developed rhegmatogenous retinal detachments from atrophic holes noted at the border of perfused and non-perfused retina. In the three eyes that had received prophylactic cryotherapy or laser, one eye developed traction retinal detachment.
Peripheral retinal neovascularization often remains stable or regresses in untreated eyes. Patients must be followed carefully, as retinal detachments can develop from atrophic holes at the border of perfused and non-perfused retina.
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