X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

@article{Molday2012XlinkedJR,
  title={X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms},
  author={Robert S Molday and Ulrich Kellner and Bernhard H F Weber},
  journal={Progress in Retinal and Eye Research},
  year={2012},
  volume={31},
  pages={195-212}
}
X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major structural unit, an N-terminal cleavable signal sequence, and regions responsible for subunit… CONTINUE READING
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