Clinical and genetic features of CNGA3 achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials

ACHM can manifest at very early stages of life. Mild damage to the outer layers of the retina is a typical change in early-stage ACHM. Patients with genetic variants potentially leading to structural changes in the cGMP binding site of the synthesized protein tend to exhibit more severe retinal phenotypes. Ultimately, our research may aid in formulating guidelines for selecting patients and determining the optimal timing for interventions in upcoming gene replacement therapies.