NEJM:你的虹膜会跳舞吗?

2017-09-15 MedSci MedSci原创

女性患者,65岁,在其同卵双胞胎诊断患有Marfan综合征后,在诊所进行该疾病的评估。体格检查发现虹膜炎或虹膜“跳舞”,这是由眼睛快速运动引起的。同时还注意到3/6全舒张期杂音。超声心动图显示主动脉窦扩张(直径5厘米),重度主动脉瓣关闭不全、二尖瓣脱垂。体检检查还发现患者3/6全肛门狭窄杂音。超声心动图显示Valsalva窦扩张(直径5.0 cm),严重主动脉瓣反流和二尖瓣脱垂。基因测定揭示了编码

女性患者,65岁,在其同卵双胞胎诊断患有Marfan综合征后,在诊所进行该疾病的评估。体格检查发现虹膜炎或虹膜“跳舞”,这是由眼睛快速运动引起的。同时还注意到3/6全舒张期杂音。超声心动图显示主动脉窦扩张(直径5厘米),重度主动脉瓣关闭不全、二尖瓣脱垂。



体检检查还发现患者3/6全肛门狭窄杂音。超声心动图显示Valsalva窦扩张(直径5.0 cm),严重主动脉瓣反流和二尖瓣脱垂。基因测定揭示了编码原纤维蛋白基因的突变(Cys576Gly变异体),证实了Marfan综合征的诊断

虹膜震颤,是眼睛运动时虹膜的闪烁或颤抖,是晶状异位的表现,Marfan综合征患者特征性症状是晶状体的全脱位或部分脱位。原纤维蛋白是悬韧带的主要成分,负责稳定眼内的晶状体;编码原纤维蛋白的基因突变可以削弱悬韧带并导致晶状体异位。

患者成功进行了主动脉瓣和根部修复,并在3年随访中表现良好。眼科医生定期随访,没有进一步的治疗。


原始出处:

Dhaval Desai, A. Jamil Tajik. Iridodonesis. N Engl J Med 2017; 377:e14September 14, 2017DOI: 10.1056/NEJMicm1615424

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    2018-04-04 LSJ123
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  3. [GetPortalCommentsPageByObjectIdResponse(id=1754779, encodeId=ea2d1e54779a1, content=<a href='/topic/show?id=efff8856504' target=_blank style='color:#2F92EE;'>#虹膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=88565, encryptionId=efff8856504, topicName=虹膜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ab9a36785616, createdName=LSJ123, createdTime=Wed Apr 04 13:20:00 CST 2018, time=2018-04-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1679535, encodeId=b2b616e95358d, content=<a href='/topic/show?id=6cfb931599c' target=_blank style='color:#2F92EE;'>#跳舞#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=93159, encryptionId=6cfb931599c, topicName=跳舞)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=81e827781130, createdName=lanyan20020095, createdTime=Fri Apr 13 07:20:00 CST 2018, time=2018-04-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=244266, encodeId=b72924426610, content=学习了新知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Fri Sep 15 11:33:40 CST 2017, time=2017-09-15, status=1, ipAttribution=)]
    2017-09-15 Y—xianghai

    学习了新知识

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