Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers

Abstract

Purpose: To assess retinal function in HNPCC gene mutation carriers.

Patients: 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.

Conclusion: Constitutional dysfunction of the inner retina appears to be a characteristic feature of HNPCC gene mutation carriers.