RPE65 gene

The RPE65 gene provides instructions for making a protein crucial for vision. This protein is found in the retinal pigment epithelium, a layer of cells in the eye that supports light-sensitive cells called photoreceptors. The RPE65 protein plays a vital role in converting light into visual signals. Mutations in the RPE65 gene can lead to inherited retinal diseases, causing progressive vision loss or blindness, particularly conditions like Leber congenital amaurosis and retinitis pigmentosa. Advances in gene therapy targeting RPE65 have shown promise in restoring vision in some affected individuals.