Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors, Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)specific protein thought to be involved in the Il-cis-retinoid metabolism, a key process in vision, cause severe, early onset retinal dystrophy, We describe two novel missense RPE65 mutations, L22P and H68Y, in a compound heterozygote with autosomal recessive retinal dystrophy, The relatively mild phenotype associated with these mutations suggests a possible link between the severity of the disease and the type of mutations in the RPE65 gene.