rss
Br J Ophthalmol 2008;92:1467-1470 doi:10.1136/bjo.2008.143776
  • Original Article
    • Clinical science

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
  • Accepted 23 July 2008
  • Published Online First 14 August 2008

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.

Footnotes

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

  • Competing interests: None.

  • Patient consent: Obtained.

This Article

  1. Abstract
  2. Full text
  3. PDF
  4. All versions of this article:
    1. bjo.2008.143776v1
    2. 92/11/1467 most recent

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.