目的：分析色素失禁症(IP)患儿的临床表型及基因型，旨在提高临床医生对该病的认识。

方法：收集2020年2月于宁夏回族自治区人民医院眼科就诊的IP家系1个。先证者及其家庭成员接受全面全身及眼部检查，抽取外周静脉血，提取DNA，进行全基因组外显子测序及MLPA检测，明确致病变异位点。根据患儿眼底病变程度给予相应的治疗，随访期间观察患儿眼部临床特征和疗效。

结果：本研究中患儿为女性，就诊年龄8岁，初诊时具有典型的皮肤改变及瘢痕性脱发，且合并牙齿异常。基因检测结果提示患儿携带IKBKG基因4-10号外显子杂合缺失的变异chrX：153440010-153446570del。患儿双眼病变不对称，左眼病变严重，眼球萎缩，眼部B超提示眼内结构紊乱，右眼周边视网膜可见新生血管形成，给予患儿右眼视网膜激光光凝治疗，在随访过程中未发现视网膜病变进展。

结论：IP患儿的眼部临床表型各异，视网膜血管病变为主要改变。对临床上确诊为IP的患儿早期行眼部筛查，且及时、规范的治疗显得尤为关键。

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.