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.