Clinical features of ocular anomalies in infants with incontinentia pigmenti

Authors: Wang Liang,  Li Manhong,  Zhang Zifeng,  Yan Hongxiang,  Wu Lei,  Zhou Yi,  Fan Jing,  Gou Kaili,  Wang Yusheng

DOI: 10.3760/cma.j.cn115989-20200624-00451
Published 2021-01-10
Cite as Chin J Exp Ophthalmol, 2021,39(01): 34-41.

Abstract                              [View PDF] [Read Full Text]

Objective

To investigate the ocular clinical manifestations in pediatric patients with incontinentia pigmenti (IP).

Methods

A case series study was carried out and a retrospective analysis was performed.Clinical data of 13 pediatric patients with IP treated from January 2013 to December 2019 in Xijing Hospital were collected.All the patients underwent regular ophthalmologic examination.Three patients accepted fundus fluorescein angiography and six eyes of five patients were treated with retinal photocoagulation or anti-vascular endothelial growth factor (VEGF) intravitreal injection according to severity of the condition.The follow-up period ranged from 6 months to 6 years.The medical history, family history, systemic manifestations, ocular characteristics, diagnosis, treatment as well as ocular and systemic changes during follow-up were recorded and analyzed.This study followed the Declaration of Helsinki and the study protocol was approved by the Ethics Committee of Xijing Hospital, Fourth Military Medical University (No.KY20203287-1).

Results

All the 13 patients were female aged from 5 days to 42 months at first visit, with the average age of 2.0 (1.0, 8.5) months.As for the main skin lesions at first visit, there were 4 cases in erythematous vesicle stage, 3 cases in verrucous exanthema stage, and 6 cases in hyperpigmented stage.There were 7 cases in shrinkage stage during follow-up.Among the 26 eyes of 13 patients, 18 eyes of 10 patients showed ocular anomalies, accounting for 76.9% of total patients (69.2% of total eyes). Among the 13 patients, 8 patients presented bilateral ocular involvement, 2 patients showed unilateral anomalies, and 3 patients had no ocular lesions.The retina was involved in all patients with ocular manifestations.The typical retinal lesions included avascular zone of peripheral retina in 13 eyes, tortuous and dilated retinal vessels in 10 eyes, increased vascular branch in 7 eyes, white linear retinal arteries and partial vascular occlusion in 4 eyes, retinal neovascularization in 3 eyes, total retinal detachment in 2 eyes, and retinal fold with macular lamellar hole in 1 eye.In addition, there was retinal hemorrhage in 11 eyes, retinal pigment changes in 4 eyes, grey ridge lesions in 3 eyes, macular dysplasia in 2 eyes, choroidal atrophy in 1 eye, optic gliosis in 1 eye and yellowish-white retinal exudate in 1 eye.There were also 4 patients with other ocular manifestations, such as strabismus and eyeball atrophy.Retinal photocoagulation was performed in 4 eyes of 3 patients and anti-VEGF intravitreal injection in 2 eyes of 2 patients.The retinal lesions regressed and the condition of patients kept stable during follow-up.

Conclusions

The ocular clinical manifestations in patients with IP are usually typical and diverse, and the retinal vascular lesion is the main type.Early diagnosis and timely treatment are of great significance.

Key words:

Incontinentia pigmenti; Ocular manifestation; Clinical characteristics; Retinopathy; Infant

Contributor Information

Wang Liang
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Li Manhong
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Zhang Zifeng
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Yan Hongxiang
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Wu Lei
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Zhou Yi
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Fan Jing
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Gou Kaili
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
Wang Yusheng
Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China
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Updated: December 15, 2022 — 1:37 am