Elmann Solly, Hanson Sarah A, Bunce Christopher N, Shinder Roman
Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, New York, U.S.A.
Ophthalmic Plast Reconstr Surg. 2015 Mar-Apr;31(2):e35-7. doi: 10.1097/IOP.0000000000000060.
A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement.
一名9岁女孩因患有缺指（趾）-外胚层发育不良-腭裂（EEC）综合征前来评估先天性左侧泪溢。该患者5岁时曾成功接受右侧外泪囊鼻腔造口术治疗先天性右侧泪溢。检查时发现了一些眼部异常，包括上睑泪点缺失、左侧下泪点缺失、左侧泪囊瘘在左侧泪阜处开口、左侧泪湖增大、双侧睑板腺发育不全、轻度结膜充血以及睑缘睫毛和眉毛稀疏。全身检查结果包括唇腭裂修复术后状态、手足缺指（趾）、无牙症和小牙症、鼻尖、以及色素浅淡、干燥的头发和皮肤。患者接受了麻醉下检查及左侧结膜泪囊鼻腔造口术并置入琼斯管，术后泪溢症状消失。据作者所知，这是第二例详细描述EEC综合征先天性泪道异常治疗的报告，也是第一例描述采用结膜泪囊鼻腔造口术及琼斯管置入治疗泪点闭锁的报告。
