However, in other studies the percentage of retinitis pigmentosa or cone dystrophy due to ABCA4 mutations may be higher (Sung et al. 2020), mainly due to founder mutation effects and/or due to cohort particularities. While NGS technologies have greatly improved the molecular diagnosis in patients with inherited retinal dystrophies, it is desirable to develop cheaper strategies for genetic characterization. This evidence concerns the gene ABCA4 and retinitis pigmentosa.