Article
RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.
Investigative ophthalmology & visual science - 3 Nov 2025
Ren Mengmeng, Chen Xiang, Gao Pan, Huang Yukan, Yu Shanshan, Reilly James, Sun Kui, Han Yunqiao, Hu Hualei, Li Pei, Luo Jiong, Dai Liyan, Zhu Yuejie, Lu Qunwei, Shu Xinhua, Wang Shusheng, Ren Xiang, Tang Zhaohui, Liu Mugen
Abstract excerpt
Purpose: X-linked retinitis pigmentosa (XLRP) is a severely blinding retinal disease, most of which are due to mutations in retinitis pigmentosa GTPase regulator (RPGR). The patients with RPGR mutations exhibit severe retinal pigment epithelium (RPE) atrophy and photoreceptor degeneration. Previous research mainly focused on the role of RPGR in the connecting cilia of photoreceptors. However, the mechanism...
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