The eye screen design in Czech Centre for Phenogenomics and selected models for eye diseases

Summary The eye screen will be part of emerging Czech Centre for Phenogenomics (CCP) in proximity to Prague. The purpose of our eye screen will be the detection of various eye abnormalities in eye morphology and eye physiology. We would like to examine retina structure abnormalities using optical coherence tomography, or anterior segment abnormalities using Scheimpflug imaging. In addition, we plan to perform functional analysis of the visual system using virtual optomotor system. Finally, retinal function will be tested by electroretinography. Based on our previous work, we have expertise especially in the field of transcriptional regulation of eye development. Specifically, our interest is transcriptional regulation of Pax6 that is crucial for eye development in various species. Pax6 haploinsufficiency is characterized by aniridia in human and by small eye phenotype in mouse. Therefore, here we describe our results using transgenic mouse models to reveal requirement of upstream regulators of Pax6 for lens induction.