Significance In 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.

中文翻译：

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环境亮度和遗传学在 RPE65 显性突变引起的视网膜营养不良中的相互作用

意义 在人类中，视网膜色素上皮 (RPE) 65 的基因突变与致盲性疾病有关，目前尚无有效的治疗方法可以缓解受影响患者的进行性视网膜变性。我们的研究结果发现，环境光强度增强导致游离视蛋白增加，视网膜激活增加，当与杂合子 D477G 突变和聚集引起的 RPE 视觉周期功能障碍相结合时，导致视网膜变性的发生。