外胚层发育不良综合征患者的眼部症状和体征。
Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.
作者信息
Kaercher T
机构信息
City Eye Hospital, Bremserstrasse 79, 67063 Ludwigshafen, Germany.
出版信息
Graefes Arch Clin Exp Ophthalmol. 2004 Jun;242(6):495-500. doi: 10.1007/s00417-004-0868-0. Epub 2004 Feb 13.
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.
目的
尽管已经制定了精确的纳入标准，但外胚层发育异常综合征仍未得到充分认识。目的是确定易于检测的眼科症状和体征，作为外胚层发育异常综合征的可靠标准。
方法
36例确诊为外胚层发育异常综合征的患者纳入观察性病例系列：少汗型外胚层发育异常（30例）、EEC综合征（3例）、AEC综合征（2例）、戈林-戈尔茨综合征（1例）。对每位患者进行眼科检查。主要观察指标是不同严重程度的外胚层发育异常综合征患者的眼部症状和体征。
结果
约94.4%的患者有干眼症状。94.4%的患者眉毛稀疏；91.6%的患者睫毛异常。95.45%的患者睑板腺有改变。角膜变化如血管翳在患者后期出现。
结论
睑板腺镜检查发现的睑板腺改变是外胚层发育异常综合征最可靠的眼部体征。
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