Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Human molecular genetics - 15 Dec 2016
Charng Jason, Cideciyan Artur V, Jacobson Samuel G, Sumaroka Alexander, Schwartz Sharon B, Swider Malgorzata, Roman Alejandro J, Sheplock Rebecca, Anand Manisha, Peden Marc C, Khanna Hemant, Heon Elise, Wright Alan F, Swaroop Anand
Abstract excerpt
Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and mice, gene augmentation therapy has been shown to arrest the progressive degeneration of rod and cone photoreceptors. However, the distribution of potentially treatable photoreceptors across the human retinas and the rate of degeneration are not known. Here,...
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