Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta, Edmonton, Canada.
Clin Genet. 2018 Jun;93(6):1123-1130. doi: 10.1111/cge.13148. Epub 2018 Jan 25.
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes, including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal-dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Here, an overview of the clinical spectrum of ARS is provided. As well, the known underlying genetic defects, clinical diagnostic possibilities, genetic counseling and treatments of ARS are discussed in detail.
Axenfeld-Rieger 综合征（ARS）是一组主要影响眼前节的发育障碍，具有临床和遗传异质性，常导致继发性青光眼。ARS 患者还可能出现全身变化，包括牙齿缺陷、轻度颅面畸形和脐部异常。ARS 以常染色体显性遗传方式遗传；40%的患者的潜在缺陷是 PITX2 或 FOXC1 突变。本文概述了 ARS 的临床谱。此外，还详细讨论了 ARS 的已知潜在遗传缺陷、临床诊断可能性、遗传咨询和治疗。
