PURPOSE: To assess the retinal function in patients with von Hippel-Lindau disease (VHL). PATIENTS: Studies were undertaken in 12 patients (17 eyes) with detected VHL gene mutation and 12 normal healthy controls (17 eyes). METHODS: Pattern ERG (PERG), standard flash electroretinogram (ERG) recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards. RESULTS: 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. CONCLUSIONS: It can be hypothesized that dysfunction of the inner retinal layer is present in individuals with VHL disease even in patients without retinal angiomas.
PURPOSE: To assess the retinal function in patients with von Hippel-Lindau disease (VHL). PATIENTS: Studies were undertaken in 12 patients (17 eyes) with detected VHL gene mutation and 12 normal healthy controls (17 eyes). METHODS: Pattern ERG (PERG), standard flash electroretinogram (ERG) recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards. RESULTS: In VHLpatients, 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. CONCLUSIONS: It can be hypothesized that dysfunction of the inner retinal layer is present in individuals with VHL disease even in patients without retinal angiomas.
Authors: C C Chan; A O Vortmeyer; E Y Chew; W R Green; D M Matteson; D F Shen; W M Linehan; I A Lubensky; Z Zhuang Journal: Arch Ophthalmol Date: 1999-05
Authors: E R Maher; L Iselius; J R Yates; M Littler; C Benjamin; R Harris; J Sampson; A Williams; M A Ferguson-Smith; N Morton Journal: J Med Genet Date: 1991-07 Impact factor: 6.318