Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly

The study demonstrated that the loss of Msx2 function in mice led to significant eye development defects resembling Peters anomaly, characterized by anterior segment dysgenesis, including microphthalmia, corneal opacity, and lens abnormalities. The absence of Msx2 resulted in down-regulation of FoxE3 and up-regulation of Prox1 and crystallin, disrupting the lens cell cycle and causing cornea-lentoid adhesions. These findings provided genetic evidence of Msx2's crucial role in regulating early eye development and suggested the need for genetic testing for MSX2 mutations in patients with Peters anomaly.