Article
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.
Investigative ophthalmology & visual science - 1 Aug 2016
Langlo Christopher S, Patterson Emily J, Higgins Brian P, Summerfelt Phyllis, Razeen Moataz M, Erker Laura R, Parker Maria, Collison Frederick T, Fishman Gerald A, Kay Christine N, Zhang Jing, Weleber Richard G, Yang Paul, Wilson David J, Pennesi Mark E, Lam Byron L, Chiang John, Chulay Jeffrey D, Dubra Alfredo, Hauswirth William W, Carroll Joseph
Abstract excerpt
PURPOSE: Congenital achromatopsia (ACHM) is an autosomal recessive disorder in which cone function is absent or severely reduced. Gene therapy in animal models of ACHM have shown restoration of cone function, though translation of these results to humans relies, in part, on the presence of viable cone photoreceptors at the time of treatment. Here, we characterized residual cone structure in subjects with...
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