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A normal eog in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
  1. Francesco Testa (testa.francesco{at}unina2.it),
  2. Settimio Rossi (settimio.rossi{at}unina2.it),
  3. Ilaria Passerini (ilariapasserini{at}libero.it),
  4. Andrea Sodi (asodi{at}tin.it),
  5. Valentina Di Iorio (valedior{at}inwind.it),
  6. Emanuela Interlandi (intermanu{at}libero.it),
  7. Michele Della Corte (michele.dellacorte{at}unina2.it),
  8. Ugo Menchini (ugomenchini{at}unifi.it),
  9. Ernesto Rinaldi (franctes{at}tin.it),
  10. Francesca Torricelli (f.torricelli{at}unifi.it),
  11. Francesca Simonelli (franctes{at}tin.it)
  1. Department of Ophthalmology, Second University of Naples
  2. Dep. of Ophthalmology, Second University of Naples
  3. Cytogenetics and Gentics Unit, Azienda Ospedaliera Careggi, Florence
  4. Dep. of Ophthalmology, University of Florence
  5. Dep. of Ophthalmology, Second University of Naples
  6. Dep. of Ophthalmology, Second University of Naples
  7. Dep. of Ophthalmology, Second University of Naples
  8. Dep. of Ophthalmology, University of Florence
  9. Dep. of Ophthalmology, Second University of Naples
  10. Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, Florence
  11. Department of Ophthalmology, Second University of Naples

    Abstract

    Aims: To describe clinical and genetic findings in an Italian family affected by Best disease.

    Methods: Five related patients underwent a complete ophthalmologic assessment; genetic testing was performed by single strand conformation polymorphism analysis and direct sequencing of the BEST1 gene.

    Results: In three of five family members the sequence analysis of the BEST1 gene revealed a single Phe to Leu transition at nucleotide 305 associated with clinical evidence of Best disease. Surprisingly the electro-oculogram was normal in all affected patients.

    Conclusion: This study reveals a de novo mutation in the BEST1 gene never described before, sustaining the autosomal-dominant pattern of inheritance of the disease. Clinical evaluation showed phenotypic variability between affected members. In addition, our data suggest that a normal electro-oculography (EOG) does not to rule out a diagnosis of Best disease, supporting instead, the crucial role of molecular analysis.

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