Abstract
Mutations in the gene encoding ABCR are responsible for Stargardt macular dystrophy. Here we show by immunofluorescence microscopy and western-blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. Our results suggest that the loss in central vision experienced by Stargardt patients arises directly from ABCR-mediated foveal cone degeneration.
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Acknowledgements
We thank J. Nathans for providing the ABCR1156-1258, ABCR425-570, green/red cone opsin JH 492 and blue cone opsin JH 455 polyclonal antibodies; J. Hurley for the cone transducin A1.1 antibody; A. Bird for discussions; and the UBC Eye Bank for human donor eyes. Support was provided by grants from the Ruth and Milton Steinbach Foundation, National Eye Institute and the Medical Research Council of Canada.
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Molday, L., Rabin, A. & Molday, R. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet 25, 257–258 (2000). https://doi.org/10.1038/77004
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DOI: https://doi.org/10.1038/77004
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