Ophthalmology And Visual Sciences

Robert F. Mullins, MS, PhD


Hansjoerg EJW Kolder, MD PhD, Professor in Best Disease Research
Professor of Ophthalmology and Visual Sciences
Professor of Molecular Physiology and Biophysics, Biophysics

Contact Information

Primary Office: 4135E  MERF
Iowa City, IA 52242
Primary Office Phone: 319-335-8222

Email: robert-mullins@uiowa.edu
Web: Chorioretinal Degenerations Laboratory


BS, Biology, Wheaton College
MS, Biology, Saint Louis University
PhD, Cell and Molecular Biology, Saint Louis University

Post Doctoral, Center on Aging, The University of Iowa

Education/Training Program Affiliations

Biosciences Graduate Program
Interdisciplinary Graduate Program in Genetics

Research Summary

Our laboratory's primary research interests revolve around the structural and molecular basis for degenerative diseases of the retina, with particular focus on the retinal pigment epithelium in Best disease and the choriocapillaris in age-related macular degeneration. Best disease is a relatively rare but potentially devastating form of macular degeneration. Over one hundred different mutations in the responsible gene, VMD2/bestrophin, can result in this autosomal dominant disorder. Bestrophin most likely functions as a chloride channel and thus may regulate the ionic milieu in the subretinal space. We are using both in situ approaches and in vitro approaches to understand how specific mutations affect behavior of the mutant protein and to examine the regional distribution of the bestrophin protein in normal eyes, as well as to evaluate genotype-phenotype relationships for eyes with Best disease. Age-related macular degeneration (AMD) is a common cause of blindness that affects as many as one in three elderly individuals to some degree. With the increasing median age of the population, it is widely appreciated that the impact of AMD will worsen in the coming years. Recent genetic and histopathologic studies indicate that AMD is associated with inflammation, and there is strong evidence for leukocyte extravasation in the pathogenesis of the disease; however the role of the vasculature in recruiting leukocytes during these inflammatory events is poorly understood. The choriocapillaris is the capillary bed responsible for nourishing the photoreceptor cells of the retina, and is the most likely source for recruiting leukocytes in AMD. We are interested in determining the biological changes of the choriocapillaris in eyes with macular degeneration by examining human donor tissue, as well as cell surface molecules that differ between normal and neovascular endothelial cells. In addition to ?descriptive? studies in situ, we are interested in characterizing the molecular responses of human choroidal endothelial cells (cultured from human eyes) to the types of microenvironmental pro-inflammatory challenges that occur in macular degeneration, including exposure to complement components and products of extracellular matrix protein degradation. Molecular and functional assays of human choroidal EC are performed in the presence or absence of these ?AMD microenvironment? challenges. In addition we have several active collaborations in The University of Iowa, evaluating animal models of inherited retinal diseases, and assisting other faculty in answering histological questions in the eye.

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration
Center on Aging
Stephen A. Wynn Institute for Vision Research

Selected Publications

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Tucker B, Anfinson K, Mullins R, Stone E, Young M.  Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation.  Stem Cells Transl Med.  2013 January 4. 2(1):16-24.

Kay C, Abramoff M, Mullins R, Kinnick T, Lee K, Eyestone M, Chung M, Sohn E, Stone E.  Three-dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients With Best Vitelliform Macular Dystrophy.  Archives of Ophthalmology.  2012 November 14. 130(3):357-364.

Zhang L, Lee K, Niemeijer M, Mullins R, Sonka M, Abramoff M.  Automated Segmentation of the Choroid from Clinical SD-OCT.  Invest Ophthalmol Vis Sci.  2012 November 1. 53(12):7510-7519.

Schweitzer D, Gaillard E, Dillon J, Mullins R, Russell S, Hoffmann B, Peters S, Hammer M, Biskup C.  Time-resolved autofluorescence imaging of human donor retina tissue from donors with significant extramacular drusen.  Invest Ophthalmol Vis Sci.  2012 April 19. 53(7):3376-86.

Mao M, Solivan-Timpe F, Roos B, Mullins R, Oetting T, Kwon Y, Brzeskiewicz P, Stone E, Alward W, Anderson M, Fingert J.  Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.  Mol Vis.  2012 April 18. 18:705-13.

Mullins R, Kuehn M, Radu R, Enriquez G, East J, Schindler E, Travis G, Stone E.  Autosomal Recessive Retinitis Pigmentosa Due To ABCA4 Mutations: Clinical, Pathologic, and Molecular Characterization.  Investigative Ophthalmology and Visual Science.  2012 April. 53(4):1883-94.

Mullins R, Sohn E.  Bruch's Membrane, the Critical Barrier in AMD .  InTech Publishing.  2012. 

Sohn E, Mullins R, Stone E.  Macular Dystrophies.  5. Saunders/Elsevier;  2012.

Kay C, Abramoff M, Mullins R, Kinnick T, Lee K, Eyestone M, Chung M, Sohn E, Stone E.  Three Dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients with Best Vitelliform Macular Dystrophy.  Arch Ophthalmol.  2011 November 14. 

Mullins R, Dewald A, Streb L, Wang K, Kuehn M, Stone E.  Elevated membrane attack complex in human choroid with high risk complement factor H genotypes.  Experimental Eye Research.  2011 June 26. 93(4):565-567.

Date Last Modified: 07/01/2014 - 15:16:41