title: Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family.
abstract: OBJECTIVE
  To describe the genotype and phenotype in a 9-year-old boy with bilateral retinopathy.
  
  
  METHODS
  The patient, his healthy (by history) nonconsanguineous parents and his sister were examined by best-corrected visual acuity, matrix frequency doubling technology, monocular static field analysis, fundus autofluorescence imaging, optical coherence tomography, Ganzfeld electroretinography (ERG), pattern ERG, multifocal ERG, electro-oculography and genotyping of the BEST1 gene.
  
  
  RESULTS
  The patient presented with an Arden ratio of 1.25, an unremarkable ERG and fluorescent yellow deposits distributed throughout the fundus suggestive of autosomal recessive bestrophinopathy (ARB). Genotyping revealed a homozygous nonsense mutation in BEST1 (p.R200X). The parents and the sister, who were heterozygous mutation carriers, presented with normal ophthalmological function.
  
  
  CONCLUSIONS
  ARB is a rare retinal disorder. We contribute a novel patient report indicative of ARB, assessed by clinical examination and confirmed by genotyping of BEST1, to the short list of ARB cases in the literature.
authors.affiliation: Departments of Ophthalmology and ORL, University of Bari, Italy. silvanaguerriero@gmail.com
authors.forename: S
authors.initials: S
authors.lastname: Guerriero
authors.forename: M N
authors.initials: MN
authors.lastname: Preising
authors.forename: N
authors.initials: N
authors.lastname: Ciccolella
authors.forename: F
authors.initials: F
authors.lastname: Causio
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: R
authors.initials: R
authors.lastname: Fischetto
mesh_terms: D002648:Child; D018118:Chloride Channels / Q000235:genetics; D004247:DNA / Q000235:genetics*; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: D018118:Chloride Channels; D005136:Eye Proteins; D004247:DNA