Causes of congenital corneal opacities and their management in a tertiary care center

ABSTRACT Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients’ demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

【摘要】
研究目的：评估三级眼科医疗中心确诊的先天性角膜混浊（congenital corneal opacities, CCO）的病因与诊疗方案，并将本研究数据与本院既往开展的同类研究进行对比。
研究方法：回顾性分析2007年1月1日至2015年12月31日期间，宾夕法尼亚州费城威尔斯眼科医院（Wills Eye Hospital）角膜科收治的所有先天性角膜混浊患者的电子病历。纳入首次就诊时年龄≤12岁的儿童。从病历中提取患者人口统计学信息、眼部诊断结果、眼别、伴随眼部异常、首次就诊前后实施的其他眼部手术及其治疗方案等数据。
研究结果：本研究共纳入56例患者的77只患眼。患者首次就诊时的平均年龄为32.8±44.2个月，平均随访时长为26.7±30.1个月。最常见的诊断为彼得斯异常（Peters anomaly，53.2%），其次为角膜缘皮样瘤（limbal dermoid，13.0%）、伴青光眼与小眼球的无虹膜症（aniridia with glaucoma and microphthalmos，6.5%）、硬化性角膜合并先天性青光眼（sclerocornea and congenital glaucoma，5.2%）、特发性先天性角膜混浊（idiopathic，3.9%）、阿克森费尔德-里格尔异常（Axenfeld-Rieger anomaly）与胡尔勒综合征（Hurler syndrome，2.6%），以及小角膜（microcornea，1.3%）。共26只患眼接受了初次角膜移植术，随访期间植片透明率为76.0%。
研究结论：彼得斯异常为本中心收治的先天性角膜混浊最常见病因。穿透性角膜移植术（penetrating keratoplasty）是治疗先天性角膜混浊最常用的角膜手术方式。穿透性角膜移植术中的附加干预措施与植片失败率呈中度正相关。本研究同时显示，近数十年来本三级角膜中心收治的先天性角膜混浊患者的部分病因构成比已发生变化。尽管彼得斯异常仍是先天性角膜混浊最常见的首诊病因，但其近十年的检出率似乎呈上升趋势。产伤所致的先天性角膜混浊属于可预防病因之一，本院既往研究中曾有此类病例报道，但本研究未纳入新发产伤相关病例。