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Harboyan综合征一例

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摘要 Harboyan综合征是指先天性遗传性角膜内皮营养不良同时伴有进行性听力减退或丧失的一种遗传性疾病,临床罕见,全世界报道的病例仅24例,国内未见有报道.笔者发现一例该综合征患者,报告如下. 患儿男性,11岁.因自幼双眼视力差,伴有听力下降(耳聋),2010年3月来河南省眼科研究所就诊.其父母为近亲结婚.眼部检查:右眼裸眼视力0.1,矫正视力0.3(-0.50 DS(())-5.00 DC×14°),左眼裸眼视力0.15,矫正视力0.4(0.75DS(())-4.00DC×17°);眼压右眼为24 mm Hg(1 mm Hg=0.133 kPa),左眼为28.3 mm Hg(非接触眼压计);裂隙灯检查双眼全角膜基质弥漫水肿,呈毛玻璃样外观,角膜厚度增加,前房正常,瞳孔圆,光反射灵敏(图1,2);眼底模糊,未见青光眼杯.
出处 《中华眼科杂志》 CAS CSCD 北大核心 2013年第10期934-936,共3页 Chinese Journal of Ophthalmology
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参考文献9

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