Leber's congenital amaurosis (LCA) is a group of inherited retinal diseases with severe visual impairment. The main symptoms of LCA are loss of visual acuity, nystagmus, and decreased or absent light reflexes in the optic rods and cones at birth or several months after birth. Approximately 16% of LCA is caused by mutations in the RPE65 gene. In the visual cells vitamin A aldehyde (retinal) and opsins form the retinoid, and vitamin A aldehyde absorbs light and isomerizes to all-trans-retinal, causing a change in retinal conformation and initiating the neural impulses to the brain that lead to vision. During the breakdown and resynthesis of the retinal, a portion of vitamin A aldehyde is consumed and is mainly replenished by vitamin A (retinol) in the blood. The retinoid isomerase encoded by the RPE65 gene is present in the retinal pigment epithelium (RPE) of the retina, and the RPE65 protein plays a key role in the visual process by participating in the conversion of vitamin A to vitamin A aldehyde and the re-production-of-retinal-photoreceptor pigments, and is, therefore, a key molecule in the conversion and transmission of light signals by the retina ^[1]. Mutations in the RPE65 gene can lead to further degeneration of the neural retina and RPE cells, resulting in irreversible blindness. Mutations in multiple alleles of RPE65 have been found to destroy optic nerve cells and lead to type II Leber's congenital amaurosis (LCA2) and early onset severe retinal dystrophy (EOSRD), ultimately leading to complete blindness ^[1-3].

This product is a mouse Rpe65 knockout model that uses gene editing technology to knock out the homolog of the human RPE65 gene in mice. The deletion of Rpe65 gene expression in mice resulted in disruption of RPE cell function, apoptosis of photoreceptor cells, disorganization of the outer segmental discs of optic rods, and quenching of optic rod waveforms, causing severe retinal degeneration.