■泪管闭锁或发育不全(PA)是一种罕见的先天性异常,其特征是泪管泪点缺失或闭合,可能与系统遗传异常有关。仅基于PA的存在进行遗传检查的必要性仍然不确定。本研究调查了一组PA患者,检查相关综合征的患病率和类型。
■对2009-2023年间在费城儿童医院诊断为PA的所有患者进行了回顾性医疗记录审查,分析病史和基因检测结果。主要结果包括全身综合征的患病率,而次要结局集中在相关综合征的多样性上。
■纳入了44名患者,其中31人为男性(70%),平均年龄为3.3±3.3岁。总的来说,研究队列中的87个puncta受到影响,26例(59%)为双侧。在19例患者中发现了系统性异常或遗传综合征(43%),最常见的是外胚层发育不良和唐氏综合征。证明了其他罕见综合征。没有发现系统性异常和性别之间的显著关联,双边性,或者涉及的puncta的数量。
■在研究队列中观察到系统性综合征的高发生率(43%)。在患有PA的个体中,他们也表现出眼外疾病,应考虑系统评估和遗传检查。在我们的队列中确定的综合征诊断还包括:Branchio-oto-renal综合征,22q11.2缺失综合征,1q21.1微缺失综合征,NF1,一元4q和三体6q,代表着新颖的联想。PA的表型严重程度与全身性异常之间缺乏相关性,这突出表明需要获得全面的病史并考虑对PA患者进行全身性检查。
UNASSIGNED: Punctal atresia or agenesis (PA) is a rare congenital anomaly characterized by the absence or closure of the tear duct puncta, potentially linked to systemic genetic anomalies. The necessity of a genetic workup based solely on the presence of PA remains uncertain. This study investigates a cohort of PA patients, examining the prevalence and types of associated syndromes.
UNASSIGNED: A retrospective medical records review of all patients diagnosed with PA at the Children\'s Hospital of Philadelphia between 2009-2023 was conducted, analyzing medical histories and genetic testing results. Primary outcomes included the prevalence of systemic syndromes, while secondary outcomes focused on the variety of associated syndromes.
UNASSIGNED: Forty-four patients were included, of which 31 were male (70%) with a mean ± SD age 3.3 ± 3.3 years. Overall, 87 puncta in the study cohort were affected, and 26 cases (59%) were bilateral. Systemic abnormalities or genetic syndromes were identified in 19 patients (43%), with the most common being Ectodermal Dysplasia and Down syndrome. Additional rare syndromes were demonstrated. No significant association was found between systemic abnormalities and gender, bilaterality, or the number of puncta involved.
UNASSIGNED: A high incidence of systemic syndromes (43%) was observed in the study cohort. In individuals with PA who also exhibit extraocular disease, systemic evaluation and genetic workup should be considered. Syndromic diagnoses identified in our cohort also include: Branchio-oto-renal syndrome, 22q11.2 deletion syndrome, 1q21.1 microdeletion syndrome, NF1, monosomy 4q and trisomy 6q, which represent novel associations. The lack of correlation between PA\'s phenotypic severity and systemic abnormalities highlights the need to obtain a comprehensive medical history and consider a systemic workup in PA patients.