Ali Mohammad Javed, Paulsen Friedrich
*Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India; and †Institut für Anatomie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Ophthalmic Plast Reconstr Surg. 2017 Nov/Dec;33(6):399-407. doi: 10.1097/IOP.0000000000000923.
To review and summarize the syndromic, nonsyndromic, and systemic associations of congenital lacrimal drainage anomalies.
The authors performed a PubMed search of all articles published in English on congenital lacrimal anomalies (1933-2016). Patients of these articles were reviewed along with the literature of direct references to syndromes and other systemic associations. Data reviewed included syndromic descriptions, systemic details, demographics, lacrimal presentations, management, and outcomes.
Syndromic and systemic associations with congenital lacrimal drainage disorders are not known to be common. Although familial presentations have been reported, the inheritance patterns are unclear for most anomalies. There is an increasingly growing evidence of a genetic basis to many lacrimal anomalies. However, few syndromes have either widespread or are frequently associated with lacrimal anomalies. Few sequences of distinct lacrimal presentations and intraoperative findings are seen. Surgical challenges in these patients are distinct and a thorough pre and intraoperative anatomical assessment, detailed imaging when indicated, and assessment and correction of associated periocular and facial abnormalities may facilitate good outcomes.
Lacrimal drainage anomalies associated with syndromic and nonsyndromic systemic conditions have certain unique features of their own and their surgical and anesthesia challenges are distinct. Diagnosis of congenital lacrimal drainage anomalies should prompt consideration of the possible presence of associated systemic abnormalities.
回顾并总结先天性泪道引流异常的综合征性、非综合征性及全身性关联。
作者对PubMed上发表的所有关于先天性泪道异常的英文文章（1933 - 2016年）进行了检索。对这些文章中的患者以及直接提及综合征和其他全身性关联的文献进行了回顾。回顾的数据包括综合征描述、全身细节、人口统计学、泪道表现、治疗及结果。
已知先天性泪道引流障碍的综合征性和全身性关联并不常见。尽管有家族性病例报道，但大多数异常的遗传模式尚不清楚。越来越多的证据表明许多泪道异常存在遗传基础。然而，很少有综合征广泛或频繁地与泪道异常相关。不同泪道表现和术中发现的序列很少见。这些患者的手术挑战独特，全面的术前和术中解剖评估、必要时的详细影像学检查以及相关眼周和面部异常的评估与矫正可能有助于取得良好结果。
与综合征性和非综合征性全身性疾病相关的泪道引流异常有其自身独特的特征，其手术和麻醉挑战也各不相同。先天性泪道引流异常的诊断应促使考虑可能存在的相关全身性异常。
