Robert F Mullins


Depts of Ophthalmology and Visual Sciences and Physiology and Molecular Physiology

The major focus of my laboratory is to understand the cellular and molecular basis of human retinal diseases, including age-related macular degeneration (AMD) and Best vitelliform macular degeneration.

We are especially interested in the role of the choroid in the development of AMD and other macular diseases. The choroid is a layer of the eye containing a rich vascular supply that provides nutrients to the photosensitive rods and cones of the retina. In addition to its role in nourishing the retina, the choroid plays important roles in retinal pathology in AMD. Our laboratory has found that loss of capillary endothelial cells occurs very early in the dry form of AMD as well. With new developments in stem cell technology, we are exploring the replacement of dead cells with stem cell derived endothelial cells.

In addition to AMD, we are interested in the pathogenesis of other macular diseases, particularly Best disease, a genetic form of macular degeneration with an early onset. Our laboratory is interested in understanding how mutations in the gene BEST1 lead to the distinct macular “egg yolk” lesion, why the lesions tend to form in the macula and spare the extramacular retina, and what other genetic factors interact with the BEST1 gene product to modify the Best disease phenotype.