Retinal cell genome

The retinal cell genome refers to the complete set of genetic instructions contained within the specialized cells of the retina, including photoreceptors, retinal pigment epithelium (RPE), and ganglion cells. It serves as the fundamental blueprint for retinal development and the maintenance of the visual cycle, but mutations within specific genes—such as RPE65, CEP290, or ABCA4—lead to a variety of inherited retinal diseases (IRDs) characterized by progressive vision loss (Russell et al., 2017, The Lancet). While the genome itself is a broad biological entity rather than a single molecular target, it is the primary substrate for advanced therapeutic interventions like gene therapy and genome editing. Drugs such as voretigene neparvovec function by delivering functional copies of genes into the retinal genome to restore protein production in patients with biallelic mutations (Maguire et al., 2019, Ophthalmology). Emerging CRISPR-Cas9 technologies, such as Edit-101, aim to directly modify the retinal cell genome to excise or correct specific mutations (Maeder et al., 2019, Nature Medicine). The therapeutic focus on the retinal genome is central to the field of precision ophthalmology, though it carries risks such as off-target effects and vector-induced immunogenicity (Trapani & Auricchio, 2018, Trends in Molecular Medicine).

Other names

Retinal genomeOcular genomeRetinal genetic material

Gene augmentation, CRISPR-based gene editing, or antisense oligonucleotide-mediated splicing modulation to correct or compensate for pathogenic mutations within specific genomic loci.