ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy.
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.
Molday
L L
LL
Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
Rabin
A R
AR
Molday
R S
RS
D018528:ATP-Binding Cassette Transporters / Q000096:biosynthesis* / Q000502:physiology; D005584:Fovea Centralis / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008268:Macular Degeneration / Q000378:metabolism* / Q000473:pathology; D012160:Retina / Q000378:metabolism / Q000473:pathology; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism* / Q000473:pathology; D017948:Retinal Rod Photoreceptor Cells / Q000378:metabolism* / Q000473:pathology; D012243:Rhodopsin / Q000378:metabolism; D012374:Rod Cell Outer Segment / Q000378:metabolism / Q000473:pathology; D017299:Rod Opsins / Q000378:metabolism
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D017299:Rod Opsins; D012243:Rhodopsin