Department of Ophthalmology, The University of Texas Medical Branch, Galveston, Texas, USA.
Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA.
Orbit. 2022 Apr;41(2):162-169. doi: 10.1080/01676830.2021.1974057. Epub 2021 Sep 5.
The congenital absence of tear production or alacrima is a distinctively unusual clinical sign that harbors a wide variety of etiologies. While alacrima can be only isolated to the lacrimal system, it is more often associated with progressive multisystem involvement from underlying genetic disorders. Recognizing the subtle ocular signs in these diseases will promote a timely diagnosis and management before potential life-threatening consequences occur. Hence, the current article will review the ophthalmological findings, systemic manifestations, genetic associations, and differential diagnosis of congenital alacrima.
先天性无泪液产生或无泪症是一种明显不寻常的临床征象，其病因多种多样。虽然无泪症仅局限于泪液系统，但更常与潜在遗传疾病引起的进行性多系统受累有关。认识这些疾病中的眼部细微体征将有助于在发生潜在危及生命的后果之前及时诊断和治疗。因此，本文将综述先天性无泪症的眼部表现、全身表现、遗传相关性和鉴别诊断。
