A Broad Range of Ophthalmologic Anomalies Is Part of the Holoprosencephaly Spectrum
A Broad Range of Ophthalmologic Anomalies Is Part of the Holoprosencephaly Spectrum
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DOI：
10.1002/ajmg.a.34261
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发表时间：
2011-11-01
影响因子：
2
通讯作者：
Muenke, Maximilian
中科院分区：
文献类型：
--
作者：
Pineda-Alvarez, Daniel E.;Solomon, Benjamin D.;Muenke, Maximilian
前脑完整畸形(HPE)是人类最常见的前脑发育障碍，其特征是大脑半球和脑深部结构的分裂失败或不完全。HPE包括广泛的表型变异，脑部和颅面异常均为连续体。虽然HPE患者的“典型”眼部表现，包括从睫状眼到低眼压的中线异常频谱，以及脉络膜视网膜缺损和小眼球，经常被描述为HPE患者，但也可能发生其他微妙的眼睛异常。在我们的研究中，我们前瞻性地分析了10名患者，在这些患者中，我们发现了SHH、Six3、ZIC2或FGF8的突变，后者是最近描述的一种HPE相关基因。我们发现10例患者中有9例至少有两种眼科异常，包括屈光不正、小角膜、小眼球、上睑下垂、外斜视和葡萄膜缺损。这些发现有助于理解HPE谱的表型变异性，并突出了在一个医学上重要但往往不完全调查的系统中的发现。出版于2011年。这篇文章是美国政府的工作，属于美国的公共领域。
Holoprosencephaly (HPE) is the most common disorder of the developing forebrain in humans, and is characterized by failed or incomplete cleavage of the cerebral hemispheres and deep brain structures. HPE includes wide phenotypic variability, with a continuum of both brain and craniofacial anomalies. While "classic'' eye findings, including the spectrum of midline anomalies ranging from cyclopia to hypotelorism, as well as chorioretinal coloboma and microphthalmia, have been frequently described in patients with HPE, other subtle eye anomalies may also occur. In our study we prospectively analyzed a small cohort of 10 patients in whom we identified mutations in SHH, SIX3, ZIC2, or FGF8, the latter of which is a very recently described HPE-associated gene. We found that 9 of 10 patients had at least two ophthalmologic anomalies, including refractive errors, microcornea, microphthalmia, blepharoptosis, exotropia, and uveal coloboma. These findings contribute to the understanding of the phenotypic variability of the HPE spectrum, and highlight findings in one medically important but often incompletely investigated system. Published 2011. This article is a U.S. Government work and is in the public domain in the USA.