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单卵双胞胎兄弟患阿克森费尔德-里格尔综合征:病例报告

Axenfeld-Rieger syndrome in monozygotic twin brothers: Case report.

作者信息

Akcay Betul Ilkay Sezgin, Kardes Esra, Limon Utku

机构信息

Department of Ophthalmology, Umraniye Training and Research Hospital, Istanbul, Turkiye.

出版信息

North Clin Istanb. 2022 Aug 15;9(4):411-413. doi: 10.14744/nci.2021.89577. eCollection 2022.

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

阿克森费尔德-里格尔综合征(ARS)是一种影响多个器官系统的遗传性疾病。在眼部,它与前段发育异常相关,青光眼风险较高。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。一对患有ARS的5岁同卵双胞胎兄弟因虹膜异常被转诊至乌姆拉尼耶培训与研究医院眼科门诊。就诊时,两名患者均发现了ARS的典型特征,包括虹膜异常(虹膜异位、虹膜发育不全和施瓦贝环处的虹膜条索)、少牙症、缺牙症、尿道下裂和脐周皮肤褶皱。两名患者的眼压均在正常范围内。患者在青光眼科接受随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fecf/9514076/303c671d1700/NCI-9-411-g001.jpg

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