Long-Term Ocular Outcomes in Incontinentia Pigmenti: A 23-Year Tertiary Referral Single-Center Experience

ABSTRACT Purpose To characterize the long-term natural history, retinal phenotypic variability, and treatment outcomes in incontinentia pigmenti (IP), and to explore the association between fluorescein angiography (FA)–guided management and retinal outcomes. Design Retrospective interventional case series. Subjects Medical records of patients with IP seen at Moorfields Eye Hospital between 2000 and 2023 were reviewed. Methods Diagnosis was confirmed by dermatologic findings, histopathology, and/or genetic testing. All patients underwent ophthalmic examination, with wide-field imaging and FA performed when feasible. Main outcomes included retinal stage, visual acuity, genotype–phenotype correlations, laser treatment outcomes, incidence of retinal detachment (RD), and vitreoretinal surgery outcomes. Results Seventy-six eyes of 38 patients (36 female) were included, with a mean follow-up of 14.1 years. Retinal involvement was identified in 45 eyes (59.2%), ranging from retinal pigment epithelium changes to total RD. Fourteen eyes (18.4%) of 12 patients had tractional RD at presentation, most commonly in children presenting before 1 year of age. Fifteen eyes (19.7%) underwent laser photocoagulation for peripheral avascular retina and/or neovascularization, with a mean of 1.9 treatment sessions per eye. Among eyes with attached retinae at presentation that received FA-guided laser, none progressed to RD. In contrast, four eyes with untreated peripheral avascular retina developed RD, including patients older than 1 year. Surgical outcomes for RD were generally poor. Increased use of FA identified subclinical peripheral vascular abnormalities not evident on clinical examination alone. Genetic testing most commonly identified the recurrent IKBKG exon 4–10 deletion, with marked interocular and intrafamilial variability in retinal severity. Conclusion IP retinopathy carries lifelong risk of RD, highest in infancy but persisting beyond 1 year of age. FA identified peripheral vascular abnormalities that were not evident on color fundus examination alone. Angiography-based assessment provides advantages over color fundus-based staging alone. The observed outcomes support the use of early angiographic assessment and suggest a potential benefit of FA-informed surveillance and laser treatment.