Updates on congenital lacrimal drainage anomalies and their association with syndromes and systemic disorders: A major review.

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 associated 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 at 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.