1.
Proc Natl Acad Sci U S A
; 119(11): e2115202119, 2022 03 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35271391
RESUMO
SignificanceIn humans, genetic mutations in the retinal pigment epithelium (RPE) 65 are associated with blinding diseases, for which there is no effective therapy alleviating progressive retinal degeneration in affected patients. Our findings uncovered that the increased free opsin caused by enhancing the ambient light intensity increased retinal activation, and when compounded with the RPE visual cycle dysfunction caused by the heterozygous D477G mutation and aggregation, led to the onset of retinal degeneration.