Genotypic and clinical phenotypic analysis of children with incontinentia pigmenti accompanied by ocular lesions
10.3980/j.issn.1672-5123.2025.9.22
- VernacularTitle:儿童色素失禁症伴眼部病变的基因型及临床表型分析
- Author:
Zhen LI
1
;
Xiaoyu HUANG
1
;
Xunlun SHENG
1
;
Weining RONG
1
Author Information
1. People's Hospital of Ningxia Hui Autonomous Region;People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Yinchuan 750001, Ningxia Hui Autonomous Region, China
- Publication Type:Journal Article
- Keywords:
incontinentia pigmenti;
ocular manifestations;
retinopathy;
IKBKG gene
- From:
International Eye Science
2025;25(9):1511-1516
- CountryChina
- Language:Chinese
-
Abstract:
AIM:To analyze the clinical phenotypes and genotypes of children with incontinentia pigmenti(IP)and enhance clinicians' understanding of the condition.METHODS: A family with IP diagnosed in February 2020 at the ophthalmology department of People's Hospital of Ningxia Hui Autonomous Region was enrolled. The proband and family members underwent comprehensive systemic and ocular examinations. Peripheral venous blood was collected for DNA extraction, followed by whole-exome sequencing and MLPA assay to identify pathogenic variants. Corresponding treatments were administered based on the severity of fundus lesions, and ocular clinical features and therapeutic outcomes were monitored during follow-up.RESULTS: The child in this study was a female, aged 8 years, with typical skin changes and scarring alopecia and dental abnormalities at the time of initial consultation. The results of genetic testing suggested that the child carried a heterozygous deletion of exons 4-10 of the IKBKG gene chrX:153440010-153446570del. The child had asymmetric lesions in both eyes, with severe lesions in the left eye, atrophy of the eyeballs, and ocular B-ultrasound suggesting structural disturbances in the eye, and neovascularization was seen in the peripheral retina of the right eye, and the patient was given laser photocoagulation treatment for the right eye, and no progression of retinopathy was detected during follow-up.CONCLUSION:Children with IP have different ocular clinical phenotypes, and retinal vasculopathy is the main change. Early screening and timely and standardized treatment are crucial for children diagnosed with IP.
