Background

To review and update the syndromic and non-syndromic systemic associations of congenital lacrimal drainage anomalies.

Methods

The authors performed a PubMed search of all articles published in English on congenital lacrimal drainage anomalies (CLDA). The current review provides an update from January 2017 to August 2020 on all CLDA associated with clinical syndromes or non-syndromic systemic disorders. The update intends to appraise the readers on all papers that were published in the interim 3-year period since the publication of the previous major review by authors (1933–2016). Patients with specific syndromes or systemic disorders were then reviewed. Pertinent cross-references from each of the short-listed articles were also included. Data reviewed include syndromic descriptions, systemic details, demographics, lacrimal presentations, management, and outcomes.

Results

There have been significant new updates. Eleven new syndromes have been added to the list of syndromic associations, of which three were suspects. Among the new syndromic associations, three (PHACE, Williams–Beuren, and Peter’s plus syndromes) described CLDA details in depth. Several new non-syndromic systemic conditions with association CLDA also came to light, the foremost amongst them being proboscis lateralis, diprosopus dirrhinus, cerebral palsy, and NGLY-1 related disorders. Although familial presentations have been reported, the inheritance patterns are unclear for most anomalies. Surgical challenges in these patients are distinct, and a thorough pre-operative assessment, including detailed imaging when indicated, may facilitate good outcomes. Two updated tables reflecting the summary of syndromic and non-syndromic systemic associations are provided to capture the details in a glance.

Conclusion

It is not very uncommon to find CLDA in syndromic or non-syndromic systemic disorders. Diagnosis of a craniofacial syndrome should prompt the physician to look out for CLDA. Similarly, a diagnosis of multiple CLDA should alert the examiner for the possible presence of associated systemic anomalies.

中文翻译：

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先天性泪道引流异常及其与综合征和全身性疾病相关性的最新进展：主要综述

背景

审查和更新先天性泪道引流异常的综合征和非综合征全身关联。

方法

作者对所有以英语发表的关于先天性泪道异常 (CLDA) 的文章进行了 PubMed 搜索。本综述提供了 2017 年 1 月至 2020 年 8 月期间所有与临床综合征或非综合征全身性疾病相关的 CLDA 的更新。本次更新旨在评估自上一次作者主要评论（1933-2016）发表后的 3 年中期发表的所有论文的读者。然后对患有特定综合征或全身性疾病的患者进行审查。还包括来自每篇入围文章的相关交叉引用。审查的数据包括症状描述、系统细节、人口统计学、泪道表现、管理和结果。

结果

有重要的新更新。11 种新综合征已被添加到综合征关联列表中，其中 3 种是可疑的。在新的综合征关联中，三个（PHACE、Williams-Beuren 和 Peter's plus 综合征）深入描述了 CLDA 的细节。与 CLDA 相关的几种新的非综合征全身性疾病也被曝光，其中最重要的是长鼻、diprosopus dirrhinus、脑瘫和 NGLY-1 相关疾病。尽管已经报道了家族性表现，但大多数异常的遗传模式尚不清楚。这些患者的手术挑战是不同的，全面的术前评估，包括必要时的详细成像，可能会促进良好的结果。

结论

在综合征或非综合征全身性疾病中发现 CLDA 并不少见。颅面综合征的诊断应促使医生注意 CLDA。同样，多个 CLDA 的诊断应提醒检查员可能存在相关的全身异常。