andrew-voigt@uiowa.edu
Mentor: Robert Mullins, Ph.D.
Lab Room: 4120 MERF
Lab Phone: 319-335-9955

Molecular characterization of macular versus peripheral ocular tissues

In human vision, the retina serves as a specialized light sensitive tissue necessary for visual perception. Photoreceptor cells localized to the outer retina perform phototransduction, the process of converting a photon of light into a neurochemical signal that is propagated to the brainstem for visual interpretation. Such retinal physiology is extensively supported by two underlying tissues, the retinal pigment epithelium (RPE) and the choroid. Adding to this complexity, cell types in each of these tissues vary in their morphology and function based upon their location. Humans and other primates possess a fovea centralis, an excavated pit within the retina that is dominated by morphologically distinct cones and Müller cells, which allows for high acuity and color vision. Supporting this region of retina, RPE cells and choroidal cells are densest and have unique morphologies. Unfortunately, cells in each of these tissues can harbor a multitude of mutations that impact vision and can result in irreversible blindness.

As many visual diseases can selectively affect or spare different regions of the eye, spatially characterizing gene expression patterns has potential clinical importance. In particular, single-cell RNA sequencing has allowed us to characterize the transcriptome of individual cell populations within these heterogeneous tissues and to identify regionally-expressed genes that may play a role in disease pathogenesis. The focus of our current research is to identify regional transcriptomic signatures for human retina, choroid, and RPE at the single cell level. We are particularly motivated to identify gene expression changes within choroidal endothelial cells as a result of age-related macular degeneration (AMD) and the molecular features that predispose macular endothelial cells to disease.



Voigt AP, Whitmore SS, Flamme-Wiese MJ, Riker MJ, Wiley LA, Tucker BA, Stone EM, Mullins RF, Scheetz TE. Molecular characterization of foveal versus peripheral human retina by single-cell RNA sequencing. Exp Eye Res. 2019 May 8;184:234-242. doi: 10.1016/j.exer.2019.05.001. [Epub ahead of print] PubMed PMID: 31075224.