Debra A. Thompson

TL;DR: These findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.

TL;DR: The analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation, two point mutations affecting splicing and two small re-arrangements on a total of nine alleles of five patients with arCSRD.

TL;DR: In dogs, RPE65 gene therapy with the same vector at lower doses improved vision-guided behavior, but only higher doses resulted in improvements in retinal function that were detectable with the use of ERG, and comparison with the results obtained in the dog model indicates that there is a species difference in the amount of R PE65 required to drive the visual cycle.

TL;DR: The phenotype resulting from RPE65 mutations appears to be relatively uniform and independent of mutation class, suggesting that most missense mutations result in loss of function in patients with early-onset retinal degeneration.

TL;DR: The studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells, which is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase.