Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge
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DOI：
10.4103/0301-4738.187681
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发表时间：
2016-06-01
影响因子：
3.1
通讯作者：
Yadav, Naresh K.
中科院分区：
文献类型：
--
作者：
Kemmanu, Vasudha;Rathod, Pragnya;Yadav, Naresh K.
上睑下垂综合征(BPES)是一种罕见的常染色体显性遗传病。它的临床特征有四个主要特征：眼睑肥大、上睑下垂、内翻内皮和远端内翻。我们报告一位1岁女性患有BPES，并伴有单侧胎儿前持续性血管(PFV)。检查发现，她具有BPES的所有临床特征，并伴有钙化和部分吸收的白内障，睫状突在她的斜眼拉长。LET EY的B超显示附着性视网膜，无后部PFV迹象。全身检查正常。她在全麻下接受了一期后囊膜切开术和人工晶状体植入术。文献检索未发现任何单侧前部PFV和BPES的报道。本文讨论了该病的临床特征、其他相关因素以及外科治疗中的困难。
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus. We report a case of a 1-year-old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her let eye. B-scan of let eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.