Article
The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.
Proceedings of the National Academy of Sciences of the United States of America - 15 Mar 2022
Wu Wenjing, Takahashi Yusuke, Shin Henry Younghwa, Ma Xiang, Moiseyev Gennadiy, Ma Jian-Xing
Abstract excerpt
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...
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