Microthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Understanding the Spectrum
Microthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Understanding the Spectrum
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DOI：
10.1001/jamaophthalmol.2013.5305
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发表时间：
2013-12-01
影响因子：
8.1
通讯作者：
Jamieson, Robyn V.
中科院分区：
文献类型：
--
作者：
Skalicky, Simon E.;White, Andrew J. R.;Jamieson, Robyn V.
目的记录小眼症、无眼症和缺陷症患者的眼部和系统表现以及遗传模式，以深入了解其潜在的发育病因。设计、背景和参与者这一连续的回顾性病例系列是在一个三级转诊中心进行的。这项研究纳入了1981-2012年间在悉尼Westmead儿童医院就诊的141名无症状病因的小眼症、无眼症和缺陷性疾病的患者。根据有无视裂闭合缺陷(OFCD)对外露病例进行分组；将患有OFCD的病例进一步细分为小眼病和非小眼病。结果141例患者中，61例(43%)为微眼性非眼球异常(NOFCD)，34例(24%)为微眼性OFCD，32例(23%)为非微眼性缺损(OFCD)，9例(6%)为无眼症，5例(4%)未分类。63例(45%)有双侧病变。合并眼部异常84例(60%)，其中白内障(P
IMPORTANCE Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities.OBJECTIVE To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies.DESIGN, SETTING, AND PARTICIPANTS This retrospective consecutive case series was conducted at a tertiary referral center. Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology who attended the Westmead Children's Hospital, Sydney, from 1981-2012.EXPOSURE Cases were grouped on the basis of the presence or absence of an optic fissure closure defect (OFCD); those with OFCD were further subdivided into microphthalmic and nonmicrophthalmic cases. Anophthalmic cases were considered as a separate group.MAIN OUTCOMES AND MEASURES Associated ocular and systemic abnormalities and inheritance patterns were assessed.RESULTS Of 141 cases, 61(43%) were microphthalmic non-OFCD (NOFCD), 34(24%) microphthalmic OFCD, 32 (23%) nonmicrophthalmic coloboma (OFCD), 9 (6%) anophthalmic, and 5 (4%) were unclassified. Sixty-three (45%) had bilateral disease. Eighty-four patients (60%) had an associated ocular abnormality; of these, cataract (P