ABCR unites what ophthalmologists divide(s)

@article{Driel1998ABCRUW,
  title={ABCR unites what ophthalmologists divide(s)},
  author={M. V. van Driel and A. Maugeri and B. J. Klevering and C. Hoyng and F. Cremers},
  journal={Ophthalmic genetics},
  year={1998},
  volume={19 3},
  pages={
          117-22
        }
}
Over the last years, the molecular causes of monogenic chorioretinal diseases have been elucidated at an increasing pace. In contrast, only recently have genetic factors been found that contribute to multifactorial eye disorders such as age-related macular degeneration (AMD). Mutations in the retina-specific ATP-binding cassette transporter gene (ABCR) cause recessive Stargardt's disease (STGD) and fundus flavimaculatus (FFM), and were also found in 16% of patients with AMD. In addition, ABCR… Expand
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TLDR
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TLDR
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Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy. Expand
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.
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Mapping of the disease locus to chromosome 1p13-p21 supports the view that allelic mutations produce a continuum of macular dystrophies, with onset in early childhood to late adulthood. Expand
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A combination of ophthalmoscopy and electro–oculography was used for diagnosis and linkage analysis mapped the disease–causing gene to chromosome 11q13 and three markers in this region were found to be significantly linked to the disease. Expand
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
TLDR
Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage, indicating that ABCR is the causal gene of STGD/FFM. Expand
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TLDR
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