PDF(Pubmed)
Abstract：
Axenfeld-Rieger syndrome (ARS) is a genetic disease affecting multiple organ systems. In the eye, it is associated with anterior segment dysgenesis with a high risk for glaucoma. Dental anomalies, cardiovascular malformations, hypospadias, and craniofacial abnormalities are other associated systemic conditions. Five years old monozygotic twin brothers with ARS were referred to Umraniye Training and Research Hospital, ophthalmology clinic for iris abnormalities. At presentation, pathognomonic components of ARS were found in both patients, including iris anomaly (corectopia, iris hypoplasia, and iris strands in Scwalbe\'s ring), oligodontia, hypodontia, hypospadias, and periumbilical skin fold. Intraocular pressure was within normal ranges in both of the patients. Patients were followed up in the glaucoma unit.
摘要：
Axenfeld-Rieger综合征（ARS）是一种影响多器官系统的遗传疾病。在眼睛里,它与前节发育不全相关，有很高的青光眼风险。牙齿异常,心血管畸形,尿道下裂,和颅面异常是其他相关的全身性疾病。患有ARS的五岁单卵双胞胎兄弟被转诊到Umraniye培训和研究医院，虹膜异常的眼科诊所。在介绍时,在两名患者中都发现了ARS的病理成分，包括虹膜异常(直托症，虹膜发育不全,和Scwalbe环中的虹膜束)，寡头,缺省症,尿道下裂,脐周皮肤褶皱。两名患者的眼压均在正常范围内。在青光眼病房对患者进行了随访。
