Abstract
To assess the retinal function in patients with von Hippel-Lindau disease (VHL). Studies were undertaken in 12 patients (17 eyes) with detected VHL gene mutation and 12 normal healthy controls (17 eyes). Pattern ERG (PERG), standard flash electroretinogram (ERG) recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards. In VHL patients, electrophysiological statistically significant changes were found. In PERG examination, increased latency of P50 was found in the total VHL group (p < 0.02) and in the VHL subgroup with retinal angiomas (p < 0.04). In ERG examination, photopic b-wave latency was increased in the total VHL group (p < 0.03) and also in the VHL subgroup without retinal angiomas (p < 0.05). In OPs, latency increase of OP2, OP3 waves and reduced amplitude of OP3 wave in the total VHL group (OP2 latency, p < 0.05; OP3 latency, p < 0.01; OP3 amplitude, p < 0.03) and in the VHL subgroup with retinal angiomas (OP2 latency, p < 0.02; OP3 latency, p < .008; OP3 amplitude, p < 0.02) were obtained. It can be hypothesized that dysfunction of the inner retinal layer is present in individuals with VHL disease even in patients without retinal angiomas.
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