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NEJM：X性连锁遗传性视网膜劈裂症-病例报道

2020-03-19 MedSci原创 MedSci原创

X性连锁,遗传性视网膜劈裂症,病例报道
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X性连锁遗传性视网膜劈裂症是一种遗传性视网膜疾病，主要发生在男性。由于没有观察到视网膜裂孔，病人接受了非手术治疗。

患者为一名19岁的男性，患有X性连锁遗传性视网膜劈裂症，他右眼视力恶化3天而就诊。他在5岁时被诊断为X性连锁遗传性视网膜劈裂症，当时他的双眼视力下降，并伴有黄斑囊性病变。

本次就诊时，右眼视力为20/70，左眼视力为20/40。右侧眼底检查可见中央凹和正常血管系统放射出明显的视网膜皱褶(如图A所示)。光学相干断层扫描显示全层视网膜脱离和视网膜深部皱褶(如图B箭头所示)，以及弥漫性视网膜裂。

X性连锁遗传性视网膜劈裂症是一种遗传性视网膜疾病，主要发生在男性。由于没有观察到视网膜裂孔，病人接受了非手术治疗。

患者每日口服乙酰唑胺2周后，视网膜脱离消失。在随访时视力恢复到20/40。

原始出处：

Yunjeong Lee,et al.Retinal Detachment in X-Linked Retinoschisis.N Engl J Med 2020;https://www.nejm.org/doi/full/10.1056/NEJMicm1904890

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  1. [GetPortalCommentsPageByObjectIdResponse(id=1860109, encodeId=0ea8186010993, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Fri Jan 29 09:04:28 CST 2021, time=2021-01-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380793, encodeId=bb2f380e9376, content=很好的学习机会, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2018/04/12/cd30eefc465f70dc4dad89bd57479781.jpg, createdBy=02be2318568, createdName=一天没事干, createdTime=Sat Mar 21 08:19:41 CST 2020, time=2020-03-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1270238, encodeId=43fd12e023842, content=<a href='/topic/show?id=979690e33bd' target=_blank style='color:#2F92EE;'>#视网膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90733, encryptionId=979690e33bd, topicName=视网膜)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=742793, createdName=zutt, createdTime=Fri Mar 20 23:04:28 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380731, encodeId=9242380e317b, content=学习了，很有用，不错, beContent=null, objectType=article, channel=null, level=null, likeNumber=75, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib3IzoRn621JdKCFUI4XvNELcibocrAVU6aUzEVDSaf3rYH08PUYUiagGqxAEhj8g9WqqNvD1CupIpCrmnR2OrqHZh/0, createdBy=7f181365728, createdName=飛歌, createdTime=Fri Mar 20 02:48:24 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1035173, encodeId=8b8a10351e37e, content=顶刊就是顶刊，谢谢梅斯带来这么高水平的研究报道，我们科里同事经常看梅斯，分享梅斯上的信息, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f0620, createdName=旺医, createdTime=Thu Mar 19 11:04:28 CST 2020, time=2020-03-19, status=1, ipAttribution=)]
    2021-01-29 般若傻瓜

    #遗传性#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1860109, encodeId=0ea8186010993, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Fri Jan 29 09:04:28 CST 2021, time=2021-01-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380793, encodeId=bb2f380e9376, content=很好的学习机会, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2018/04/12/cd30eefc465f70dc4dad89bd57479781.jpg, createdBy=02be2318568, createdName=一天没事干, createdTime=Sat Mar 21 08:19:41 CST 2020, time=2020-03-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1270238, encodeId=43fd12e023842, content=<a href='/topic/show?id=979690e33bd' target=_blank style='color:#2F92EE;'>#视网膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90733, encryptionId=979690e33bd, topicName=视网膜)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=742793, createdName=zutt, createdTime=Fri Mar 20 23:04:28 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380731, encodeId=9242380e317b, content=学习了，很有用，不错, beContent=null, objectType=article, channel=null, level=null, likeNumber=75, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib3IzoRn621JdKCFUI4XvNELcibocrAVU6aUzEVDSaf3rYH08PUYUiagGqxAEhj8g9WqqNvD1CupIpCrmnR2OrqHZh/0, createdBy=7f181365728, createdName=飛歌, createdTime=Fri Mar 20 02:48:24 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1035173, encodeId=8b8a10351e37e, content=顶刊就是顶刊，谢谢梅斯带来这么高水平的研究报道，我们科里同事经常看梅斯，分享梅斯上的信息, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f0620, createdName=旺医, createdTime=Thu Mar 19 11:04:28 CST 2020, time=2020-03-19, status=1, ipAttribution=)]
    2020-03-21 一天没事干

    很好的学习机会

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1860109, encodeId=0ea8186010993, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Fri Jan 29 09:04:28 CST 2021, time=2021-01-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380793, encodeId=bb2f380e9376, content=很好的学习机会, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2018/04/12/cd30eefc465f70dc4dad89bd57479781.jpg, createdBy=02be2318568, createdName=一天没事干, createdTime=Sat Mar 21 08:19:41 CST 2020, time=2020-03-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1270238, encodeId=43fd12e023842, content=<a href='/topic/show?id=979690e33bd' target=_blank style='color:#2F92EE;'>#视网膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90733, encryptionId=979690e33bd, topicName=视网膜)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=742793, createdName=zutt, createdTime=Fri Mar 20 23:04:28 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380731, encodeId=9242380e317b, content=学习了，很有用，不错, beContent=null, objectType=article, channel=null, level=null, likeNumber=75, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib3IzoRn621JdKCFUI4XvNELcibocrAVU6aUzEVDSaf3rYH08PUYUiagGqxAEhj8g9WqqNvD1CupIpCrmnR2OrqHZh/0, createdBy=7f181365728, createdName=飛歌, createdTime=Fri Mar 20 02:48:24 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1035173, encodeId=8b8a10351e37e, content=顶刊就是顶刊，谢谢梅斯带来这么高水平的研究报道，我们科里同事经常看梅斯，分享梅斯上的信息, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f0620, createdName=旺医, createdTime=Thu Mar 19 11:04:28 CST 2020, time=2020-03-19, status=1, ipAttribution=)]
    2020-03-20 zutt

    #视网膜#

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1860109, encodeId=0ea8186010993, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Fri Jan 29 09:04:28 CST 2021, time=2021-01-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380793, encodeId=bb2f380e9376, content=很好的学习机会, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2018/04/12/cd30eefc465f70dc4dad89bd57479781.jpg, createdBy=02be2318568, createdName=一天没事干, createdTime=Sat Mar 21 08:19:41 CST 2020, time=2020-03-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1270238, encodeId=43fd12e023842, content=<a href='/topic/show?id=979690e33bd' target=_blank style='color:#2F92EE;'>#视网膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90733, encryptionId=979690e33bd, topicName=视网膜)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=742793, createdName=zutt, createdTime=Fri Mar 20 23:04:28 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=380731, encodeId=9242380e317b, content=学习了，很有用，不错, beContent=null, objectType=article, channel=null, level=null, likeNumber=75, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib3IzoRn621JdKCFUI4XvNELcibocrAVU6aUzEVDSaf3rYH08PUYUiagGqxAEhj8g9WqqNvD1CupIpCrmnR2OrqHZh/0, createdBy=7f181365728, createdName=飛歌, createdTime=Fri Mar 20 02:48:24 CST 2020, time=2020-03-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1035173, encodeId=8b8a10351e37e, content=顶刊就是顶刊，谢谢梅斯带来这么高水平的研究报道，我们科里同事经常看梅斯，分享梅斯上的信息, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f0620, createdName=旺医, createdTime=Thu Mar 19 11:04:28 CST 2020, time=2020-03-19, status=1, ipAttribution=)]
    2020-03-20 飛歌

    学习了，很有用，不错

    0

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    2020-03-19 旺医

    顶刊就是顶刊，谢谢梅斯带来这么高水平的研究报道，我们科里同事经常看梅斯，分享梅斯上的信息

    0