期刊
CELLS
卷 9, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/cells9020438
关键词
autoimmune retinopathy; retinal degeneration; Muller cell; single-cell
类别
资金
- NIH [T32 GM007337, R21 EY027038, P30 EY025580]
- Research to Prevent Blindness
- Elmer and Sylvia Sramek Charitable Foundation
Degenerative diseases affecting retinal photoreceptor cells have numerous etiologies and clinical presentations. We clinically and molecularly studied the retina of a 70-year-old patient with retinal degeneration attributed to autoimmune retinopathy. The patient was followed for 19 years for progressive peripheral visual field loss and pigmentary changes. Single-cell RNA sequencing was performed on foveal and peripheral retina from this patient and four control patients, and cell-specific gene expression differences were identified between healthy and degenerating retina. Distinct populations of glial cells, including astrocytes and Muller cells, were identified in the tissue from the retinal degeneration patient. The glial cell populations demonstrated an expression profile consistent with reactive gliosis. This report provides evidence that glial cells have a distinct transcriptome in the setting of human retinal degeneration and represents a complementary clinical and molecular investigation of a case of progressive retinal disease.
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