Author Interviews, Genetic Research, Ophthalmology / 05.04.2018
Mouse Model Shows Gene Therapy Can Reverse Blue Cone Vision Disorder
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
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