The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic
Investigative Ophthalmology & Visual Science2012Vol. 53(13), pp. 8006–8006
Citations Over TimeTop 10% of 2012 papers
Joseph Carroll, Alfredo Dubra, Jessica C. Gardner, Liliana Mizrahi‐Meissonnier, Robert F. Cooper, Adam M. Dubis, Rick N. Nordgren, Mohamed A. Genead, Thomas B. Connor, Kimberly E. Stepien, Dror Sharon, David M. Hunt, Eyal Banin, Alison J. Hardcastle, Anthony T. Moore, David R. Williams, Gerald A. Fishman, Jay Neitz, Maureen Neitz, Michel Michaelides
Abstract
The photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations. Our study highlights the importance of high-resolution phenotyping to characterize cellular structure in inherited retinal disease; such information will be critical for selecting patients most likely to respond to therapeutic intervention and for establishing a baseline for evaluating treatment efficacy.
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