Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408.
Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408.
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DOI：
10.3928/23258160-20190401-10
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发表时间：
2019-04
期刊：
影响因子：
--
通讯作者：
Geoffrey A. Weiner;E. Nudleman
中科院分区：
文献类型：
--
作者：
Geoffrey A. Weiner;E. Nudleman
作者报告了一例6周大的女孩，患有小眼症、后圆锥豆状核、持续性胎儿血管和右眼缺损，并伴有左眼的牵牛花视盘异常和镰刀状视网膜皱褶。基因检测发现了ZNF408基因的一个以前未报道的突变(C.1471A>；G[p.T491A])，该突变与常染色体隐性遗传性视网膜色素变性和常染色体显性遗传性家族性渗出性玻璃体视网膜病变有关。眼科激光成像视网膜。2019年；50：253-256。]
The authors report a case of a 6-week-old girl with microphthalmia, posterior lenticonus, persistent fetal vasculature, and coloboma of the right eye, with morning glory disc anomaly and falciform retinal folds of the left eye. Genetic testing revealed a previously unreported mutation (c.1471A>G [p.T491A]) in the gene ZNF408, which has been associated with autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:253-256.].