title: Arrestin gene mutations in autosomal recessive retinitis pigmentosa.
abstract: OBJECTIVE
  To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene.
  
  
  METHODS
  Results of molecular genetic screening and case reports with DNA analysis and clinical features.
  
  
  METHODS
  University medical center.
  
  
  METHODS
  One hundred twenty anamnestically unrelated patients with autosomal recessive retinitis pigmentosa.
  
  
  METHODS
  DNA analysis was performed by single strand conformation polymorphism followed by nucleotide sequencing to search for a mutation in exon 11 of the arrestin gene. Clinical features were characterized by visual acuity slitlamp biomicroscopy, fundus examinations, fluorescein angiography, kinetic visual field testing, and electroretinography.
  
  
  RESULTS
  We identified 3 unrelated patients with retinitis pigmentosa associated with a homozygous 1-base-pair deletion mutation in codon 309 of the arrestin gene designated as 1147delA. All 3 patients showed pigmentary retinal degeneration in the midperipheral area with or without macular involvement. Patient 1 had a sibling with Oguchi disease associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with a golden-yellow reflex in the peripheral fundus. Patients 1 and 3 showed features of retinitis pigmentosa without the golden-yellow fundus reflex.
  
  
  CONCLUSIONS
  Although the arrestin 1147delA has been known as a frequent cause of Oguchi disease, this mutation also may be related to the pathogenesis of autosomal recessive retinitis pigmentosa. This phenomenon may provide evidence of variable expressivity of the mutation in the arrestin gene.
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nakazawa
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: M
authors.initials: M
authors.lastname: Tamai
mesh_terms: D000328:Adult; D000368:Aged; D019393:Arrestin / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D019393:Arrestin