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

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 codin...

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Detalhes bibliográficos
Main 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
Formato: Artigo
Idioma:Inglês
Publicado em: Copyright 2003 British Journal of Ophthalmology 2003
Assuntos:
Clinical Science - Extended Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771850/
https://ncbi.nlm.nih.gov/pubmed/12928282
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