title: [Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].
abstract: OBJECTIVE
  To describe the phenotype in an asymptomatic 64-year-old patient with family history of Best disease and to identify the disease causing variant in the BEST1 gene.
  
  
  METHODS
  Detailed ocular examination of the proband including spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography and electrooculography was performed. Direct sequencing approach was used to screen the whole coding sequence of 11 exons of BEST1.
  
  
  RESULTS
  An early vitelliform stage of Best disease presenting as a small yellowish spot in the macula was observed in the right eye. The fundus appearance in the left eye was normal. SD-OCT of the right macula revealed hypodense space between the retinal pigment epithelium and the neuroretinal layer. Arden ratio was bilaterally mildly reduced; 1.36 in the right and 1.3 in the left eye. Molecular genetic analysis identified a heterozygous change c.653G>A (p.Arg218His) as the disease-causing variant.
  
  
  CONCLUSIONS
  Here we report for the first time a phenotype-genotype correlation in a Czech patient with Best disease. SD-OCT is a fast method that may show the presence of small pathological changes. The screening of BEST1 gene enables identification of disease-causing variants in asymptomatic individuals with normal fundus appearance and thus improves counseling to the affected families.
authors.affiliation: Ocní klinika, 1. lékarská Fakulta, Univerzita Karlova a Vseobecná fakultní nemocnice, Praha.
authors.forename: B
authors.initials: B
authors.lastname: Kousal
authors.forename: F
authors.initials: F
authors.lastname: Chakarova
authors.forename: G C
authors.initials: GC
authors.lastname: Black
authors.forename: S
authors.initials: S
authors.lastname: Ramsden
authors.forename: H
authors.initials: H
authors.lastname: Langrová
authors.forename: P
authors.initials: P
authors.lastname: Lisková
mesh_terms: D001426:Bacterial Proteins; D000075002:Bestrophins; D018118:Chloride Channels; D004585:Electrooculography; D005136:Eye Proteins; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D041623:Tomography, Optical Coherence; D057826:Vitelliform Macular Dystrophy / Q000235:genetics* / Q000473:pathology
chemical_list: C113133:BEST1 protein, human; D001426:Bacterial Proteins; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; C424710:HetF protein, Nostoc punctiforme