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Article

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

The British journal of ophthalmology - 1 Sept 2003

Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, Manitto M P, Ciccodicola A, Banfi S, Brancato R, Rinaldi E

Abstract excerpt

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...

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Identifiers

PMID: 12928282
DOI: 10.1136/bjo.87.9.1130
PMCID: PMC1771850

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