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Daniel Apple, Sandra Rocio Montezuma, Robert Beardsley, Brandon McCafferty; Retinal Management in Incontinentia Pigmenti: A Case Series and Literature Review. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3837.
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© ARVO (1962-2015); The Authors (2016-present)
To present a case series of incontinentia pigmenti (IP) patients as well as review reported management strategies and propose a new management algorithm in light of these experiences.
All patients presented to the University of Minnesota from 2013-2014 for evaluation or follow up of IP. We performed chart-review on all patients documenting their clinical work-up, imaging, treatment, and follow-up. PubMed literature review was performed using the search terms incontinentia pigmenti, management, retina manifestations, and fluorescein angiography.
4 patients presented to the clinic with IP: 2 (Patients 1 and 2) presented as infants for initial evaluations at a mean age of 2.5 weeks of age and 2 (Patients 3 and 4) presented as adults. All patients had abnormal vascularization requiring laser photocoagulation yet had very different ophthalmic courses. Patient 1 had obvious abnormalities on initial exam confirmed on fluorescein angiography (FA), which remained stable after initial treatment. Patient 2 had a normal dilated exam (DFE) with vascular abnormalities noted only on FA. Follow-up FA revealed recurrence of IP retinopathy after initial treatment requiring a second treatment. Patient 3 was 22 years old with a history of PRP OD at age 5 as well as total chronic retinal detachment OD. FA revealed peripheral and central ischemia with neovascularization (NVE) OS. Patient 4 was an asymptomatic 50 year-old without history of ophthalmic manifestations of IP. DFE and FA revealed areas of nonperfusion with fibrotic tufts of NVE as well as a low-lying area of peripheral retinal detachment. Literature review revealed multiple case reports and literature reviews documenting widely varying management and follow-up algorithms illustrating a continued lack of consensus for managing this disorder.
Our experiences suggest that IP can have variable, recurrent, and life-long ophthalmic effects. Like previous algorithms, we recommend EUA with FA as early as possible and laser photocoagulation for treatment of retinal neovascularization or nonperfusion. Our algorithm differs in that we recommend more frequent follow ups and repeat FA in the first year of life as well as biannual visits until age 5 and life-long annual exams. Our proposed algorithm combines the most reasonable aspects of varied proposals with our own experience to create a plan for clinicians to follow in managing this rare disease.
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