Chorioretinal Degenerations Laboratory

The major focus of our laboratory is to understand the cellular and molecular basis of macular diseases, including age-related macular degeneration (AMD), central serous retinopathy and Best vitelliform macular degeneration.

We are especially interested in the role of the choroid in the development of AMD and other 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.  The endothelial cells that form the blood vessels of the choroid can become activated to migrate, divide and invade the retina, in the neovascular or “wet” form of AMD.

In addition to AMD, we are interested in the pathogensis of other macular diseases including Best disease.  Our laboratory is interested in understanding how mutations in Best1 lead to the distinct macular “egg yolk” phenotype, 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.  We utilize animal models, human donor eyes, cell culture approaches, biochemical methods and genetic resources unique to the Carver Family Center for Macular Degeneration to approach this problem.

We also actively collaborate with colleagues at the CFCMD and around the world in the study of other retinal diseases including Bardet-Biedl syndrome, Leber congenital amaurosis, retinitis pigmentosa, uveitis, and other acquired and inherited diseases of the retina.

It is our hope that these studies into the molecular and cellular basis of choroidal and retinal degenerations will lead to improved treatments for the millions of individuals whose sight is threatened by retinal disease.