Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in <i>ZNF408</i>

Abstract

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.].