[1]陈园婧 综述,王太玲 审校. 先天性睑裂狭小综合征诊疗的研究进展[J].中国美容医学,2019,(02):163-166.
CHEN Yuan-jing,WANG Tai-ling. Progress in Diagnosis and Treatment of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome[J].Medical Aesthetics and Beauty,2019,(02):163-166.
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先天性睑裂狭小综合征诊疗的研究进展
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《中国美容医学》[ISSN:1008-6445/CN:61-1347/R]
- 卷:
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- 期数:
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2019年02期
- 页码:
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163-166
- 栏目:
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- 出版日期:
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2019-02-15
文章信息/Info
- Title:
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Progress in Diagnosis and Treatment of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
- 文章编号:
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1008-6455(2019)02-0163-04
- 作者:
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陈园婧 综述; 王太玲 审校
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- Author(s):
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CHEN Yuan-jing; WANG Tai-ling
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- 关键词:
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[关键词]先天性; 睑裂狭小; 上睑下垂; 倒向型内眦赘皮; FOXL2基因; 卵巢功能早衰
- Keywords:
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; Keywords:congenital; blepharophimosis; ptosis; epicanthus inversus; FOXL2 gene; premature ovarian failure
- 分类号:
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R777.1
- 文献标志码:
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A
- 摘要:
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[摘要]先天性睑裂狭小综合征是一种罕见的常染色体显性遗传病，致病基因为位于染色体3q23上的FOXL2基因，主要表现为
上睑下垂、睑裂狭小、倒向型内眦赘皮及内眦间距增宽，还可伴发其他眼部及眼外症状，根据女性患者是否伴发卵巢功能早
衰可分为两型。目前，内眦赘皮及上睑下垂矫正术为矫正眼部畸形的主要治疗方法，针对不同的严重程度可采用不同的手术
方式，而手术时机及手术分期的选择仍存争议。本文就先天性睑裂狭小综合征诊疗进展做一综述。
- Abstract:
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Abstract: Blepharophimosis-ptosis-epicanthus inversus syndrome(BPES)is a rare autosomal dominant disease. Mutations of
FOXL2 gene are known to cause BPES .It is characterized by four main clinical manifestations: blepharophimosis, ptosis,
epicanthus inversus and telecanthus, probably accompanied by other ocular and non-ocular symptoms. According to the
existence of premature ovarian failure, BPES can be divided into two types. Epicanthoplasty and blepharoptosis correction
is the main treatment of ocular malformation. Surgeons can select different methods based on the severity. However,surgical
timing and staging is still controversial. This review aims to summarize advancements of BPES in recent years.
更新日期/Last Update:
2019-03-12