British Journal of Ophthalmology 2008;92:1467-1470
ORIGINAL ARTICLES
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
1 Department of Ophthalmology, Second University of Naples, Naples, Italy
2 Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, Florence, Italy
3 Department of Ophthalmology University of Florence, Florence, Italy
Correspondence to:
Dr F Simonelli, Piazza Leonardo, 14, 80129 Naples, Italy; franctes{at}tin.it
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.
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