Author Interviews, Genetic Research, Ophthalmology / 05.04.2018

MedicalResearch.com Interview with: Wen-Tao Deng, Ph.D. Department of Ophthalmology, College of Medicine| University of Florida, Gainesville, FL MedicalResearch.com: What is the background for this study? What are the main findings? Response: Blue cone monochromay (BCM) is a devastating vision disorder characterized by loss function of both L- and M-cones due to mutations in the L- and M-opin gene cluster on the X chromosome. BCM patients display severely reduced visual acuity, loss of color-vision, myopia, nystagmus, and minimally detectable cone-mediated electroretinogram. In our studies, we showed that an M-opsin knockout mouse model resembles human BCM, and expression of either human M- or L-opsin individually or combined through adeno-associated viral vector promotes regrowth of cone outer segments and rescues M-cone function in the treated M-opsin dorsal retin (more…)