Weiner Geoffrey A, Nudleman Eric
Ophthalmic Surg Lasers Imaging Retina. 2019 Apr 1;50(4):253-256. doi: 10.3928/23258160-20190401-10.
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.].
作者报告了一例6周大的女孩，患有小眼症、晶状体后圆锥、永存原始玻璃体增生症和右眼缺损，左眼有牵牛花综合征视盘异常和镰状视网膜皱襞。基因检测发现ZNF408基因存在一个先前未报道的突变（c.1471A>G [p.T491A]），该基因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。[《眼科手术、激光与视网膜成像》。2019年；50:253 - 256。]
