Ocular symptoms and signs in patients with ectodermal dysplasia syndromes
Ocular symptoms and signs in patients with ectodermal dysplasia syndromes
复制标题
DOI：
10.1007/s00417-004-0868-0
复制
发表时间：
2004-06-01
影响因子：
2.7
通讯作者：
Kaercher, T
中科院分区：
文献类型：
--
作者：
Kaercher, T
目的：外胚层发育不良综合征被低估，虽然精确的纳入标准已经制定。目的是建立容易检测的眼科症状和体征作为外胚层发育不良综合征的可靠标准。研究方法：36例确诊为外胚层发育不良综合征的患者被纳入观察性病例系列：少汗性外胚层发育不良（30例）、EEC综合征（3例）、AEC综合征（2例）、Gorlin-Goltz综合征（1例）。对每例患者进行眼科检查。主要的结局指标是不同严重程度的不同外胚层发育不良综合征患者的眼部症状和体征。方法：94.4%的患者有干眼症症状。94.4%的患者眉毛减少，91.6%的患者睫毛改变。睑板腺改变检出率为95.45%。角膜变化（如血管翳）发生在生命后期。结论：睑板镜检查发现的睑板腺改变是外胚层发育不良综合征最可靠的眼部体征。
Purpose: The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes. Methods: Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity. Methods: Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life. Conclusions: Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.