Details

Autor(en) / Beteiligte

• Testa, F
• Rossi, S
• Passerini, I
• Sodi, A
• Di Iorio, V
• Interlandi, E
• Corte, M Della
• Menchini, U
• Rinaldi, E
• Torricelli, F
• Simonelli, F

Titel

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene

Ist Teil von

• British journal of ophthalmology, 2008-11, Vol.92 (11), p.1467-1470

Ort / Verlag

BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd

Erscheinungsjahr

2008

Quelle

BMJ Journals Archiv - DFG Nationallizenzen

Beschreibungen/Notizen

• 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.