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

Br J Ophthalmol. 2003 Sep;87(9):1130-4. doi: 10.1136/bjo.87.9.1130.


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 mutations Ile81Asn and the Trp122Cys, have not been previously described. The affected males showed an electronegative response to the standard white scotopic stimulus and a prolonged implicit time of the 30 Hz flicker. In the families with Trp112Cys and Trp122Cys mutations we observed a more severe retinoschisis (RS) clinical picture compared with the other genotypes.

Conclusion: The severe RS phenotypes associated with Trp112Cys and to Trp122Cys mutations suggest that these mutations determine a notable alteration in the function of the retinoschisin protein.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Electroretinography
  • Eye Proteins / genetics*
  • Genotype
  • Humans
  • Italy
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Phenotype
  • Retinoschisis / genetics*
  • Retinoschisis / pathology


  • Eye Proteins
  • RS1 protein, human