眼前节发育异常的遗传学
Genetics of the anterior segment dysgenesis.
作者信息
Paredes Diego I, Capasso Jenina E, Wyman Celeste S, Levin Alex V
机构信息
Department of Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.
Department of Ophthalmology, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile.
出版信息
Taiwan J Ophthalmol. 2023 Jul 18;13(4):500-504. doi: 10.4103/tjo.TJO-D-23-00062. eCollection 2023 Oct-Dec.
The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld-Rieger spectrum. These conditions can have overlapping phenotypes and both genotypic and phenotypic heterogeneity. This article provides a strategy for both phenotyping and then genotyping using a targeted stepwise approach.
眼前节发育异常是一大类异质性疾病，其特征为眼部眼前节的发育异常，包括原发性先天性无晶状体、彼得斯序列征、无虹膜以及阿克森费尔德-里格尔谱系。这些病症可能具有重叠的表型以及基因型和表型的异质性。本文提供了一种采用靶向逐步方法进行表型分析然后进行基因分型的策略。
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