RPE65 gene mutation

The RPE65 gene provides instructions for making a protein that is essential for vision. This protein helps convert light into chemical signals in the retina, the light-sensitive layer at the back of the eye. A mutation in the RPE65 gene can disrupt this process, leading to vision problems, particularly in conditions like Leber congenital amaurosis and retinitis pigmentosa, which can cause severe vision loss or blindness. Researchers are exploring gene therapies to address these mutations, offering hope for restoring vision in affected individuals.