RPE65 mutations

RPE65 mutations are changes in the RPE65 gene, which plays a crucial role in the retina, part of the eye responsible for vision. This gene helps produce a protein that is essential for the conversion of light into visual signals. When mutated, it can lead to inherited retinal disorders, such as Leber congenital amaurosis and retinitis pigmentosa, both of which cause vision loss or blindness. Researchers are exploring gene therapies to correct these mutations and restore vision in affected individuals, representing a promising advancement in treating genetic eye diseases.