title: Phenotype and genotype of patients with autosomal recessive bestrophinopathy.
abstract: OBJECTIVE
  To describe the phenotype and genotype of patients with autosomal recessive bestrophinopathy.
  
  
  METHODS
  The phenotype of the subjects was described after a complete ophthalmological examination, and in various cases, ancillary testing of the visual field, optical coherent tomography, full field electroretinography and electrophysiology. Genetic analysis was carried out by screening the Bestrophin-1 (BEST1) gene for mutations by dideoxy sequencing and segregation analysis.
  
  
  RESULTS
  We identified three previously described mutations (Ala195Val, Leu191Pro and Arg141His) and two potentially pathogenic changes (Trp93Pro and Trp287Ter) in the Best-1 gene. Two patients carried compound heterozygous mutations, Trp93Pro/Ala195Val, and Leu191Pro/Trp287Ter. Two sisters were homozygous for an Arg141His mutation. All individuals with Best1 gene mutations had signs of maculopathy.
  
  
  CONCLUSIONS
  Our observations expand the limited number of phenotypes associated with mutations in the Best1 gene. Patients with compound heteroyzygous Best1 mutations developed atypical forms of Best disease. Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy.
authors.affiliation: University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
authors.forename: H V
authors.initials: HV
authors.lastname: Gudiseva
authors.forename: Adda
authors.initials: A
authors.lastname: Villanueva
authors.forename: Mark
authors.initials: M
authors.lastname: Greve
authors.forename: Rafael
authors.initials: R
authors.lastname: Caruso
authors.forename: Radha
authors.initials: R
authors.lastname: Ayyagari
mesh_terms: D000293:Adolescent; D000328:Adult; D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D004585:Electrooculography; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012160:Retina / Q000503:physiopathology; D035781:Siblings; D041623:Tomography, Optical Coherence; D014794:Visual Fields / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000235:genetics* / Q000473:pathology*
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins