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Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families
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Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families
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Journal Article
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families
2003
Overview
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.
Publisher
BMJ Publishing Group Ltd,BMJ,BMJ Publishing Group LTD,Copyright 2003 British Journal of Ophthalmology
Subject
/ Age
/ Biological and medical sciences
/ Child
/ Clinical Science - Extended Reports
/ Genotype
/ Humans
/ Italy
/ Male
/ Mutation
/ Mutation, Missense - genetics
/ Pedigree
/ Proteins
/ Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases
/ Surgery of the eye and orbit
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