Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

@article{Simonelli2003ClinicalFO,
  title={Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.},
  author={Francesca Simonelli and Giovanni Cennamo and Carmela Ziviello and Francesco Testa and Giuseppe de Crecchio and Anna Nesti and Maria Pia Manitto and Alfredo Ciccodicola and Sandro Banfi and Rosario Brancato and Ernesto Rinaldi},
  journal={The British journal of ophthalmology},
  year={2003},
  volume={87 9},
  pages={1130-4}
}
AIMS To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene. METHODS Complete ophthalmic examinations, electroretinography and A and B-scan standardised echography were performed in 18 affected males. The coding sequences of the XLRS1 gene were amplified by polymerase chain reaction and directly sequenced on an automated sequencer. RESULTS Six different XLRS1 mutations were identified; two of these… CONTINUE READING
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