The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation
Year: 2022
Type: article
Abstract: 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.
Institution: University of Oklahoma Health Sciences Center
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Awards: Studies of RPE65, Mentoring Diabetes Research in Oklahoma, The role of the Wnt signaling pathway in choroidal neovascularization, A Novel Pathogenic Pathway for Diabetic Keratopathy, A new pathogenic mechanism for diabetic retinopathy, P30 Center Core Grant for Vision Research, Studies of retinyl ester hydrolase in the visual cycle, Dysregulation of Wnt signaling in subretinal fibrosis in AMD
OpenAlex ID: W4221101780