title: Retinal dysfunction in eyes of patients with BRCA1 gene mutation.
abstract: OBJECTIVE
  To assess the retinal function in BRCA1 gene mutation carriers.
  
  
  METHODS
  Thirty unaffected patients (60 eyes) with constitutional BRCA1 gene mutation were studied. Flash ERG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards.
  
  
  RESULTS
  In ERGs, in the maximal response, amplitude of a-wave (p<0.02) was reduced. In the cone single- flash response, the amplitude of a-wave (p<0.04) was also reduced. In the scotopic oscillatory potentials (OPs), we noted: increased amplitude of OP2 (p<0.0006), increased index of OP amplitude (01+02+03+04) (p<0.04), and increased latencies of OP1 (<0.05) and OP3 (p<0.004) and OP4 (p<0.03).
  
  
  CONCLUSIONS
  Slight dysfunction of rods, cones and inner retinal layers is present in asymptomatic carriers of BRCA1 gene mutation.
authors.affiliation: Clinic of Ophthalmology, Pomeranian Medical University, Szczecin, Poland. lubinski@pro.onet.pl
authors.forename: Wojciech
authors.initials: W
authors.lastname: Lubiński
authors.forename: Bohdan
authors.initials: B
authors.lastname: Górski
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Szych
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Penkala
authors.forename: Olgierd
authors.initials: O
authors.lastname: Palacz
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D000328:Adult; D004596:Electroretinography; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012164:Retinal Diseases / Q000235:genetics*; D014792:Visual Acuity / Q000235:genetics