ATF6 Is Essential for Human Cone Photoreceptor Development

Scientists generated retinal organoids from achromatopsia patient iPSCs carrying ATF6 disease variants and from gene-edited ATF6 null human ESCs, and found that achromatopsia patient and ATF6 null retinal organoids failed to form cone structures concomitant with loss of cone phototransduction gene expression, while rod photoreceptors developed normally.