Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Issue 9 (20th August 2003)

• Record Type: Journal Article
• Authors: Simonelli, F; Cennamo, G; Ziviello, C; Testa, F; de Crecchio, G; Nesti, A; Manitto, M P; Ciccodicola, A; Banfi, S; Brancato, R; Rinaldi, E
• Is Part Of: British journal of ophthalmology. Volume 87:Issue 9(2003)
• Page Start: 1130
• Page End: 1134
• Publication Date: 2003-08-20
• Subjects: Italian families -- X linked juvenile retinoschisis -- XLRS1 gene -- mutations -- phenotype; Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjo.87.9.1130
• Languages: English
• ISSNs: 0007-1161

Abstract

Abstract : 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.