TY - JOUR T1 - A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 1467 LP - 1470 DO - 10.1136/bjo.2008.143776 VL - 92 IS - 11 AU - F Testa AU - S Rossi AU - I Passerini AU - A Sodi AU - V Di Iorio AU - E Interlandi AU - M Della Corte AU - U Menchini AU - E Rinaldi AU - F Torricelli AU - F Simonelli Y1 - 2008/11/01 UR - http://bjo.bmj.com/content/92/11/1467.abstract N2 - Aims: To describe clinical and genetic findings in an Italian family affected by Best disease.Methods: Five related patients underwent a complete ophthalmological 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, these data suggest that a normal electro-oculography (EOG) does not rule out a diagnosis of Best disease, supporting instead the crucial role of molecular analysis. ER -