Fig. 5
From: The ABCs of Stargardt disease: the latest advances in precision medicine

This diagram visualizes the structural components of rod photoreceptor cells in the retina, emphasizing the significance of the location of the ABCA4 gene in relation to STGD gene therapies. The ABCA4 protein, active in the rod outer segment, is essential for transporting retinoids as part of the visual cycle. Mutations in this gene disrupt this process, leading to the accumulation of toxic substances and contributing to STGD pathology. Rhodopsin, the light-sensitive protein within the lamellar and rim regions, is depicted in its normal and expanded forms to illustrate the structural changes that mutations can cause.