Biallelic rpe65 mutation-associated retinal dystrophy
Biallelic RPE65 mutation-associated retinal dystrophy is a rare but significant cause of inherited retinal diseases. This condition results from mutations in both copies of the RPE65 gene, a crucial gene for the function of the retinal pigment epithelium (RPE) in the eye. It leads to progressive vision loss, typically beginning in childhood or adolescence, and