Tam Mary W, Boyle Nariman
Department of Ophthalmology, SUNY Stony Brook University, Renaissance School of Medicine, New York, USA.
Am J Ophthalmol Case Rep. 2022 Dec 6;29:101766. doi: 10.1016/j.ajoc.2022.101766. eCollection 2023 Mar.
To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome.
A one-month-old female preterm twin with Goldenhar syndrome presented with left upper eyelid coloboma, left central corneal ulcer and inferotemporal epibulbar dermoid. The corneal ulcer was treated and healed to a mild stromal scar. Examination under anesthesia prior to surgery revealed agenesis of the upper and lower eyelids canaliculi. Surgery was performed to correct left upper eyelid coloboma. At a second stage, the epibulbar dermoid was excised and ocular surface was repaired with amniotic membrane graft.
Goldenhar syndrome is a rare congenital anomaly arising from the abnormal development of the first and second branchial arches. Anomalies of lacrimal drainage system are uncommon in Goldenhar including nasolacrimal duct obstruction and common canalicular obstruction. Agenesis of the lacrimal system has not been described in cases of Goldenhar syndrome. This case represents a unique and uncommonly seen feature.
报告1例患有Goldenhar综合征患者的泪腺系统发育不全病例。
一名患有Goldenhar综合征的1个月大早产女双胞胎，出现左上眼睑缺损、左眼角膜中央溃疡和颞下眼球表面皮样瘤。角膜溃疡得到治疗并愈合为轻度基质瘢痕。手术前麻醉下检查发现上下眼睑泪小管发育不全。进行手术矫正左上眼睑缺损。在第二阶段，切除眼球表面皮样瘤，并用羊膜移植修复眼表。
Goldenhar综合征是一种罕见的先天性异常，由第一和第二鳃弓异常发育引起。泪道系统异常在Goldenhar综合征中并不常见，包括鼻泪管阻塞和总泪小管阻塞。Goldenhar综合征病例中尚未描述泪腺系统发育不全。该病例代表了一种独特且罕见的特征。
