Skin Cell Lab may aid in Eye Disease Treatment

A laboratory model of the inherited eye disease known as Best disease has been created using skin cells from patients. Induced pluripotent stem cell (iPSC) technology was used to turn the cells into the laboratory model. Best disease is a fairly rare form of macular degeneration and having a patient-specific model of the disease could give researchers a better understanding of the more common age-related macular degeneration. Best disease destroys the macula of the retina. Researchers at the University of Wisconsin-Madison's McPherson Eye Research Institute took skin samples from members of two families with Best disease. The chances of children in those families inheriting the disease is 50-percent and the disease can begin destroying the macula at the age of three. Samples from both affected and unaffected siblings in the families were taken and then turned into stem cells and then into retinal pigment epithelium cells, which are the cells in the eye that are attacked by the disease. Results of the research showed that the Best cells were slow to degrade and remove debris from the eye such as dead cells resulting in a buildup of fluid and old photoreceptor cells. This discovery gives researchers new ideas of where to look for treatments that would help interfere with the disease process and the laboratory model provides a method of testing new treatments before trying them on patients.