title: Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.
abstract: OBJECTIVE
  It was the aim of this study to report on a patient in whom a novel mutation in the BEST1 gene was responsible for unilateral vitelliform phenotype in autosomal recessive bestrophinopathy (ARB).
  
  
  METHODS
  An 8-year-old young girl (proband) with unilateral vitelliform phenotype underwent a complete ophthalmologic examination at baseline (time of diagnosis) and 2 years later. Genomic DNA was extracted to look for BEST1 gene mutations in the patient and her parents.
  
  
  RESULTS
  Fundus autofluorescence imaging and spectral-domain optical coherence tomography showed unchanged findings in the right eye over the 2-year follow-up period. Conversely, both fundus autofluorescence imaging and spectral-domain optical coherence tomography showed a partial reabsorption of the hyper-autofluorescent/hyper-reflective subretinal material in the left macula over the 2-year follow-up period. On BEST1 gene analysis, the patient presented a novel mutation c.535_537delAAC (p.Asn179del) in homozygous condition; interestingly, despite the absence of parents' consanguinity, both the father and mother showed the same novel mutation in heterozygous condition.
  
  
  CONCLUSIONS
  This case of unilateral vitelliform phenotype further supports the notion that ARB represents a disease spectrum in terms of severity, age at onset and heritability.
authors.affiliation: Department of Ophthalmology, University Vita Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Maria Lucia
authors.initials: ML
authors.lastname: Cascavilla
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Querques
authors.forename: Stefania
authors.initials: S
authors.lastname: Stenirri
authors.forename: Maurizio
authors.initials: M
authors.lastname: Battaglia Parodi
authors.forename: Lea
authors.initials: L
authors.lastname: Querques
authors.forename: Francesco
authors.initials: F
authors.lastname: Bandello
mesh_terms: D017668:Age of Onset; D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012720:Severity of Illness Index; D041623:Tomography, Optical Coherence; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics*
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins