Gerald A. Fishman

TL;DR: It is found that the intervention could overcome nearly all of the loss of light sensitivity resulting from the biochemical blockade, however, this reconstituted retinoid cycle was not completely normal.

TL;DR: Gene therapy for Leber congenital amaurosis caused by RPE65 mutations is sufficiently safe and substantially efficacious in the extrafoveal retina and the results point to specific treatment strategies for subsequent phases.

TL;DR: DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis, finding thirty-nine patients found to carry 1 of 13 different point mutations at 12 amino acid positions.

TL;DR: All 14 exons of this gene were examined in 147 unrelated patients with autosomal recessive retinitis pigmentosa, in 15 patients with isolate RP, and in 45 patients with Leber congenital amaurosis, and mutations in the RPE65 gene appear to account for approximately 2% of cases of recessive RP and approximately 16% of Cases of LCA.

TL;DR: The results suggest that NR2E3 has a role in determining photoreceptor phenotype during human retinogenesis, and may be due to abnormal cone cell fate determination during retinal development.