[关键词]
[摘要]
目的:分析色素失禁症(IP)患儿的眼部表现及IP相关性视网膜病变的临床特征,以期提高对该病的认识。
方法:回顾性分析2014-01/2018-12于湖南省儿童医院确诊的IP患儿33例的临床资料,随访1a,观察患儿的全身发育情况及眼底表现,根据眼底具体情况给予治疗。
结果:纳入患儿中女31例,男2例,首次就诊年龄5d~23月龄(平均3.38±5.02月龄)。眼部异常患儿14例,其中单眼受累5例,双眼受累9例,表现为角膜混浊1例1眼、白内障1例1眼、外斜视2例2眼、视网膜病变14例23眼。眼部异常患儿中1例在随访过程中因神经系统病变死亡; 1例行右眼玻璃体切除+左眼荧光素眼底血管造影(FFA)联合视网膜激光光凝术治疗; 1例患儿行右眼玻璃体切除联合晶状体切除+左眼FFA联合视网膜激光光凝术治疗。末次随访时,13例眼部异常的存活患儿中1例眼底检查示IP相关性1期视网膜病变,其余患儿眼底病变消退。
结论:IP患儿眼部临床表现多样,以视网膜病变最为常见,因此对确诊患儿进行规范的眼底筛查与随访至关重要。
[Key word]
[Abstract]
AIM:To analyze the ocular clinical manifestations especially retinopathy of pediatric patients with incontinentia pigmenti(IP).
METHODS: Clinical data of 33 patients diagnosed with IP from January 2014 to December 2018 in Hunan Children's Hospital were retrospectively analyzed. The follow-up was 1a. All the patients underwent ocular examinations and systemic physical examinations. Patients received treatments according to their fundus condition.
RESULTS:Totally 31 female patients and 2 male patients, who aged from 5d-23mo at first visit, with the average age 3.38±5.02mo. There were 14 patients had ocular anomalies, including corneal opacity(1 case, 1 eye), cataract(1 case, 1 eye), exotropia(2 cases, 2 eyes)and retinopathy(14 cases, 23 eyes). In the 14 patients with ocular anomalies, one patient died due to neuropathy, one patient underwent vitrectomy in the right eye and fundus fluorescence angiography(FFA)combined with retinal laser photocoagulation in the left eye, one patient had lensectomy and vitrectomy in the right eye and FFA combined with retinal laser photocoagulation in the left eye during the follow-up. At the last follow-up, one of the 13 surviving patients with ocular anomalies had retinopathy of IP stage 1, while retinal lesions regressed in other patients.
CONCLUSION:The ocular manifestations of IP are diverse, which is identified with retinopathy. Standard ophthalmic fundus screening and regular follow-up are of great significance.
[中图分类号]
[基金项目]
湖南省卫生健康委科研课题(No.202107021955)