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Original Article
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
  1. F Testa1,
  2. S Rossi1,
  3. I Passerini2,
  4. A Sodi3,
  5. V Di Iorio1,
  6. E Interlandi1,
  7. M Della Corte1,
  8. U Menchini3,
  9. E Rinaldi1,
  10. F Torricelli2,
  11. F Simonelli1
  1. 1
    Department of Ophthalmology, Second University of Naples, Naples, Italy
  2. 2
    Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, Florence, Italy
  3. 3
    Department of Ophthalmology University of Florence, Florence, Italy
  1. Dr F Simonelli, Piazza Leonardo, 14, 80129 Naples, Italy; franctes{at}tin.it

Abstract

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.

https://doi.org/10.1136/bjo.2008.143776

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    Footnotes

    • Funding: Grant from Regione Campania art. 66 del D.P.R. 382/80.

    • Competing interests: None.

    • Patient consent: Obtained.