Consensus Guidance for Screening, Classification, and Treatment of Retinopathy Associated with Incontinentia Pigmenti

Incontinentia pigmenti (IP) is a rare genetic condition that can lead to blindness. Clinical practice for screening for the ocular complications of IP is variable. Current literature lacks consensus for the screening, classification, and treatment of IP-related eye disease despite substantial risk of retinal detachment (RD) and blindness. This report summarizes the state of knowledge and establishes expert guidance for screening, classification, and treatment of IP-related eye disease from the International Conference on Incontinentia Pigmenti (ICIP) sponsored by the National Foundation for Ectodermal Dysplasias in February 2025.

Literature review.

Images from authors' patients with a diagnosis of IP were included in this study.

We review the current literature on screening and treatment of retinal complications of IP and provide guidance on disease screening, classification, and management from the ICIP in 2025.

Screening, treatment, and surveillance options were reviewed.

The ICIP established guidance to support parents and ophthalmologists in appropriate screening and treatment of infants diagnosed with IP. Due to the high prevalence of retinal involvement in IP, infants diagnosed with IP should receive an early, comprehensive retinal examination, ideally with widefield fluorescein angiography. Like treatment considerations for other pediatric diseases with retinal ischemia, treatment concentrates acutely on regression of neovascularization and strategies to reduce incidence of RDs later in life.

Incontinentia pigmenti is a rare but complex multisystem disorder with the potential for serious retinal complications. Careful ophthalmic screening and surveillance are crucial to optimize patients' visual outcomes.

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