title: A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology, Second University of Naples, Naples, Italy. franctes@tin.it
authors.forename: F
authors.initials: F
authors.lastname: Testa
authors.forename: S
authors.initials: S
authors.lastname: Rossi
authors.forename: I
authors.initials: I
authors.lastname: Passerini
authors.forename: A
authors.initials: A
authors.lastname: Sodi
authors.forename: V
authors.initials: V
authors.lastname: Di Iorio
authors.forename: E
authors.initials: E
authors.lastname: Interlandi
authors.forename: M
authors.initials: M
authors.lastname: Della Corte
authors.forename: U
authors.initials: U
authors.lastname: Menchini
authors.forename: E
authors.initials: E
authors.lastname: Rinaldi
authors.forename: F
authors.initials: F
authors.lastname: Torricelli
authors.forename: F
authors.initials: F
authors.lastname: Simonelli
mesh_terms: D000328:Adult; D000075002:Bestrophins; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics* / Q000378:metabolism; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis / Q000379:methods; D004585:Electrooculography / Q000295:instrumentation; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins