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先天性虹膜括约肌和瞳孔开大肌发育不全。

Congenital aplasia of the iris sphincter and dilator muscles.

作者信息

Buys Y, Buncic J R, Enzenauer R W, Mednick E, O'Keefe M

机构信息

Department of Ophthalmology, Hospital for Sick Children, Toronto.

出版信息

Can J Ophthalmol. 1993 Apr;28(2):72-5.

PMID:8508341
Abstract

Congenital aplasia of the iris sphincter and dilator muscles is rare. We describe a 3-month-old boy with a patent ductus arteriosus who had this anomaly, with no other ocular or systemic abnormalities. The child, whom we followed for over 7 years, had reduced accommodative amplitudes. This anomaly, although it bears some similarity to Gillespie's syndrome, circumpupillary aplasia and aniridia, is an isolated, nonprogressive condition that general physicians need to differentiate from the neurologically dilated pupil so that misdirected, unnecessary investigations can be avoided.

摘要

先天性虹膜括约肌和瞳孔开大肌发育不全较为罕见。我们描述了一名患有动脉导管未闭的3个月大男婴,他存在这种异常情况,且无其他眼部或全身异常。我们对该患儿进行了7年多的随访,发现其调节幅度降低。这种异常虽然与吉莱斯皮综合征、瞳孔周围发育不全和无虹膜有一些相似之处,但它是一种孤立的、非进行性疾病,普通医生需要将其与神经源性瞳孔散大相鉴别,以免进行错误的、不必要的检查。

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2
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High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.因ACTA2基因新型Asn117Lys替代导致的多系统平滑肌功能障碍综合征中的高分辨率虹膜和视网膜成像:病例报告
BMC Ophthalmol. 2020 Feb 24;20(1):68. doi: 10.1186/s12886-020-01344-w.
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Congenital Mydriasis: Diagnostic Challenge in a Case with Accompanying Neurologic Symptoms.先天性瞳孔散大:一例伴有神经系统症状病例的诊断挑战
Neuroophthalmology. 2014 Apr 25;38(3):153-155. doi: 10.3109/01658107.2014.894089. eCollection 2014.
3
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.
丹麦三名多系统平滑肌功能障碍综合征患者的眼部特征。
Br J Ophthalmol. 2012 Sep;96(9):1227-31. doi: 10.1136/bjophthalmol-2011-301462. Epub 2012 Jul 11.
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Isolated bilateral congenital iris sphincter agenesis.孤立性双侧先天性虹膜括约肌发育不全。
Case Rep Ophthalmol Med. 2011;2011:479092. doi: 10.1155/2011/479092. Epub 2011 Dec 14.