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- W2013854760 abstract "An unusual retinal degeneration considered to be inherited as an autosomal recessive trait occurred in two of four children in a Hispanic family. The abnormality causes a progressive and generalized loss of cone vision, including decreased acuity, decreased color vision, central scotomas to small test objects, photo-phobia, and a profound diminution of the cone-mediated electroretinographic (ERG) pattern. A loss of the foveal reflex and an increased granularity of the macula is seen funduscopically. In addition, there is a most unusual alteration of the rod system detectable in the rod-mediated ERG pattern. This rod response is supernormal in amplitude (greater than 1,000 microV, extrapolated), delayed in time course, and insensitive to dim stimuli, ie, the function relating response to light intensity has been drastically altered. The insensitivity to dim stimuli is accompanied by a mild nyctalopia. Some of these abnormalities could be caused by a defect in the retinal enzyme, cyclic nucleotide phosphodiesterase." @default.
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- W2013854760 date "1983-05-01" @default.
- W2013854760 modified "2023-10-17" @default.
- W2013854760 title "Cone Dystrophy, Nyctalopia, and Supernormal Rod Responses" @default.
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- W2013854760 doi "https://doi.org/10.1001/archopht.1983.01040010718003" @default.
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