Incontinentia pigmenti-associated ocular anomalies of paediatric incontinentia pigmenti patients in China

Purpose To characterize ocular manifestations in a cohort of paediatric patients with incontinentia pigmenti (IP) and to define the guidelines for grading of IP-associated retinopathy (IPR). Methods This retrospective review was performed on patients under the age of 18 years with a diagnosis of IP. Data included demographics, medical history, ocular examination, and accessory examination. Ocular and systemic physical examinations of the parents were carried out to determine the familial history. Results Sixty-one children (58 females and three males) with median age of 3.7 months were observed consecutively. The median follow-up duration was 13.4 months (range: 6.5-75.0 months). A total of 47 patients had various ocular anomalies. Among them, 28 patients had bilateral ocular anomalies and 19 had unilateral anomalies. Vitreoretinal changes were noted in 73 of 122 eyes, including eight eyes with retinal pigment epithelium changes only (Stage 1), 22 eyes with retinal vascular abnormalities (Stage 2), five eyes with epiretinal membranes or fibrotic hyperplasia combined with avascularized zones (Stage 3), six eyes with retinal neovascularization (Stage 3), one eye with vitreous haemorrhage (Stage 3), 10 eyes with partial retinal detachment (RD) (Stage 4a), 15 eyes with total RD (Stage 4b) and eight eyes with phthisis bulbi and secondary glaucoma (Stage 5). Conclusion Various vitreoretinal manifestations can be found in paediatric patients with IP and classified into five stages, which are characterized by retinal vasculopathy.