Biallelic RPE65 mutation-associated retinal dystrophy

Biallelic RPE65 mutation-associated retinal dystrophy is a rare, severe inherited retinal disease characterized by pathogenic variants in both alleles of the *RPE65* gene

Biallelic RPE65 mutation-associated retinal dystrophy is a rare, severe inherited retinal disease characterized by pathogenic variants in both alleles of the *RPE65* gene This genetic defect disrupts the visual cycle in the retinal pigment epithelium by impairing the isomerohydrolase enzyme needed to convert all-*trans*-retinyl esters into 11-*cis*-retinal, ultimately causing progressive photoreceptor degeneration Clinically encompassing phenotypes such as Leber congenital amaurosis and early-on...

This genetic defect disrupts the visual cycle in the retinal pigment epithelium by impairing the isomerohydrolase enzyme needed to convert all-*trans*-retinyl esters into 11-*cis*-retinal, ultimately causing progressive photoreceptor degeneration

This genetic defect disrupts the visual cycle in the retinal pigment epithelium by impairing the isomerohydrolase enzyme needed to convert all-*trans*-retinyl esters into 11-*cis*-retinal, ultimately causing progressive photoreceptor degeneration Over time, affected individuals experience progressive peripheral and central vision loss, which typically leads to complete blindness as viable retinal tissue deteriorates

Clinically encompassing phenotypes such as Leber congenital amaurosis and early-onset retinitis pigmentosa, it primarily presents in infancy or early childhood with severe nyctalopia, nystagmus, and constricted visual fields

Clinically encompassing phenotypes such as Leber congenital amaurosis and early-onset retinitis pigmentosa, it primarily presents in infancy or early childhood with severe nyctalopia, nystagmus, and constricted visual fields