title: Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers.
abstract: OBJECTIVE
  To assess retinal function in HNPCC gene mutation carriers.
  
  
  METHODS
  19 carriers (38 eyes) of HNPCC genes and controls.
  
  
  METHODS
  Electro-oculogram, standard flash electroretinogram and pattern electroretinogram (PERG) recordings were performed.
  
  
  RESULTS
  In the total group of HNPCC gene mutation carriers examined by oscillatory potentials, reduced amplitude (p < 0.0004) and increased latency (p < 0.04) of the O3 wave and increased latency (p < 0.02) of the O4 wave were found. In the subgroup of carriers with hMLH1 gene mutation, reduced amplitudes of the O3 (p < 0.0005) and O4 (p < 0.04) waves were identified. In the total group of HNPCC gene mutation carriers examined by PERG, reduced amplitudes of the P50 (p < 0.003), N95 (p < 0.02) and abnormal N95/P50 ratio (p < 0.02) were revealed. In the subgroup of hMLH1 gene mutation carriers, reduced amplitude of the P50 (p < 0.04) and abnormal N95/P50 ratio (p < 0.02) were observed, whereas in the hMSH2 gene mutation carrier subgroup, reduced amplitude (p < 0.03), shortened latency of the P50 wave (p < 0.02) and reduced amplitude of the N95 wave (p < 0.03) were found.
  
  
  CONCLUSIONS
  Constitutional dysfunction of the inner retina appears to be a characteristic feature of HNPCC gene mutation carriers.
authors.affiliation: Clinic of Ophthalmology, Hereditary Cancer Center, Pomeranian Acadamy of Medicine, Szczecin, Poland. lubinski@pro.onet.pl
authors.forename: Wojciech
authors.initials: W
authors.lastname: Lubiński
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Kurzawski
authors.forename: Joanna
authors.initials: J
authors.lastname: Suchy
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: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D000328:Adult; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000503:physiopathology*; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010364:Pattern Recognition, Visual; D010775:Photic Stimulation; D012160:Retina / Q000502:physiology*; D012164:Retinal Diseases / Q000503:physiopathology*