A normal eog in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
- Francesco Testa (testa.francesco{at}unina2.it),
- Settimio Rossi (settimio.rossi{at}unina2.it),
- Ilaria Passerini (ilariapasserini{at}libero.it),
- Andrea Sodi (asodi{at}tin.it),
- Valentina Di Iorio (valedior{at}inwind.it),
- Emanuela Interlandi (intermanu{at}libero.it),
- Michele Della Corte (michele.dellacorte{at}unina2.it),
- Ugo Menchini (ugomenchini{at}unifi.it),
- Ernesto Rinaldi (franctes{at}tin.it),
- Francesca Torricelli (f.torricelli{at}unifi.it),
- Francesca Simonelli (franctes{at}tin.it)
- Department of Ophthalmology, Second University of Naples
- Dep. of Ophthalmology, Second University of Naples
- Cytogenetics and Gentics Unit, Azienda Ospedaliera Careggi, Florence
- Dep. of Ophthalmology, University of Florence
- Dep. of Ophthalmology, Second University of Naples
- Dep. of Ophthalmology, Second University of Naples
- Dep. of Ophthalmology, Second University of Naples
- Dep. of Ophthalmology, University of Florence
- Dep. of Ophthalmology, Second University of Naples
- Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, Florence
- Department of Ophthalmology, Second University of Naples
- Published Online First 14 August 2008
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.
