Article
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Human gene therapy - 1 Dec 2013
Cideciyan Artur V, Hufnagel Robert B, Carroll Joseph, Sumaroka Alexander, Luo Xunda, Schwartz Sharon B, Dubra Alfredo, Land Megan, Michaelides Michel, Gardner Jessica C, Hardcastle Alison J, Moore Anthony T, Sisk Robert A, Ahmed Zubair M, Kohl Susanne, Wissinger Bernd, Jacobson Samuel G
Abstract excerpt
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin...
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