Molecular-genetic studies, including next-generation sequencing, have recently made it possible to characterize populations for monogenic diseases with genetic heterogeneity or for huge genes, such as ABCA4. These studies related to ABCA4R are scarce and with few cases described in Mexico, although recently Zenteno et al. in a genetic study of retinal dystrophies demonstrated that this gene is one of the most frequent in our population (Zenteno et al. 2020). The gene discussed is ABCA4; the disease is Retinal dystrophy.