Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers.
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.
Lubiński
Wojciech
W
Clinic of Ophthalmology, Hereditary Cancer Center, Pomeranian Acadamy of Medicine, Szczecin, Poland. lubinski@pro.onet.pl
Kurzawski
Grzegorz
G
Suchy
Joanna
J
Szych
Zbigniew
Z
Penkala
Krzysztof
K
Palacz
Olgierd
O
Scott
Rodney J
RJ
Lubiński
Jan
J
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*