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Open AccessArticle

Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations

Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Author to whom correspondence should be addressed.
Cells 2020, 9(2), 438; (registering DOI)
Received: 19 December 2019 / Revised: 7 February 2020 / Accepted: 7 February 2020 / Published: 13 February 2020
(This article belongs to the Special Issue The Molecular and Cellular Basis of Retinal Diseases)
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 Müller 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.
Keywords: autoimmune retinopathy; retinal degeneration; Müller cell; single-cell autoimmune retinopathy; retinal degeneration; Müller cell; single-cell
MDPI and ACS Style

Voigt, A.P.; Binkley, E.; Flamme-Wiese, M.J.; Zeng, S.; DeLuca, A.P.; Scheetz, T.E.; Tucker, B.A.; Mullins, R.F.; Stone, E.M. Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations. Cells 2020, 9, 438.

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