色素失禁症相关性眼病诊疗研究进展
Research progress in the diagnosis and treatment of incontinentia pigmenti-related eye diseases
艾朝晖 1张杰2
作者信息
- 1. 潍坊医学院 临床医学院,山东 潍坊 261042;潍坊眼科医院 眼底病区,山东 潍坊 261041
- 2. 潍坊眼科医院 眼底病区,山东 潍坊 261041
- 折叠
摘要
色素失禁症是一种罕见的主要表现为特征性皮肤损害的X染色体显性连锁遗传病,多见于女性,常并发眼部及中枢神经系统异常.色素失禁症相关性眼病主要表现为视网膜血管灌注异常和缺血性增殖,也伴有白内障、斜视等非视网膜表现.色素失禁症相关性眼病早期检查、及时治疗及定期随访对于预防进展性、永久性视力丧失至关重要.本文就色素失禁症相关性眼病的发病机制、临床表现及分期、诊断标准、辅助检查及鉴别诊断、治疗及长期随访管理进行归纳总结.
Abstract
Incontinentia pigmenti is a rare X-linked genetic disease more commonly observed in women,presenting with characteris-tic skin lesions.Complications of this disease include ocular and central nervous system abnormalities.Incontinentia pigmenti-associ-ated ophthalmopathy is characterized by abnormal retinal vascular perfusion and ischemic proliferation,as well as non-retinal mani-festations such as cataracts and strabismus.Early examination,timely treatment,and regular follow-ups are essential in preventing progressive and permanent vision loss.This article summarizes the pathogenesis,clinical manifestations and stages,and diagnostic criteria of these diseases,as well as methods of auxiliary examination,differential diagnosis,treatment,and long-term follow-up management.
关键词
色素失禁症/NEMO基因/视网膜血管异常/抗VEGF治疗Key words
Incontinentia pigmenti/NEMO gene/Retinal vascular abnormalities/Anti-VEGF therapy引用本文复制引用
基金项目
山东省自然科学基金(ZR2021MH411)
出版年
2024
NETL
NSTL
万方数据