ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
- 1 July 2000
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 25 (3) , 257-258
- https://doi.org/10.1038/77004
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.Keywords
This publication has 13 references indexed in Scilit:
- Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR geneBritish Journal of Ophthalmology, 1999
- Variation of Clinical Expression in Patients With Stargardt Dystrophy and Sequence Variations in the ABCRGeneArchives of Ophthalmology (1950), 1999
- Allelic variation in ABCR associated with Stargardt disease but not age-related macular degenerationNature Genetics, 1998
- Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCRHuman Molecular Genetics, 1998
- Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCRNature Genetics, 1998
- Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular DegenerationScience, 1997
- Stargardt's ABCR is localized to the disc membrane of retinal rod outer segmentsNature Genetics, 1997
- The 220-kDa Rim Protein of Retinal Rod Outer Segments Is a Member of the ABC Transporter SuperfamilyJournal of Biological Chemistry, 1997
- A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophyNature Genetics, 1997
- Cone lamellae and red and green rod outer segment disks contain a large intrinsic membrane protein on their margins: An ultrastructural immunocytochemical study of frog retinasVision Research, 1982