RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.

چکیده

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…

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