The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

@article{Klevering2004TheSO,
  title={The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene},
  author={B. Jeroen Klevering and August F. Deutman and Alessandra Maugeri and Frans P. M. Cremers and Carel B. Hoyng},
  journal={Graefe's Archive for Clinical and Experimental Ophthalmology},
  year={2004},
  volume={243},
  pages={90-100}
}
The majority of studies on the retina-specific ATP-binding cassette transporter (ABCA4) gene have focussed on molecular genetic analysis; comparatively few studies have described the clinical aspects of ABCA4-associated retinal disorders. In this study, we demonstrate the spectrum of retinal dystrophies associated with ABCA4 gene mutations. Nine well-documented patients representing distinct phenotypes in the continuum of ABCA4-related disorders were selected. All patients received an extensive… CONTINUE READING
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