Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct sequencing of the coding region of the VHL gene had failed to identify the family-specific mutation. Further molecular analysis revealed deletions involving the VHL gene in each of these families. In four families, partial deletions of one or more exons were detected by Southern blot analysis. In the fifth family, FISH analysis demonstrated the deletion of the entire VHL gene. Our results show that (quantitative) Southern blot analysis is a sensitive method for detecting germline deletions of the VHL gene and should be implemented in routine DNA diagnosis for VHL disease. Our data support the previously established observation that families with a germline deletion have a low risk for pheochromocytoma. Further unraveling of genotype-phenotype correlations in VHL disease has revealed that families with a full or partial deletion of the VHL gene exhibit a phenotype with a preponderance of central nervous system hemangioblastoma.

Studying the oscillatory potentials in diabetic retinopathy, the authors experienced several problems interpreting results of digital filtering. The main problem was the separation of the first potential from the a-wave, since their frequencies are within the same range. To improve the procedure of measuring implicit times and of calculating amplitudes, the filtering was started with a finite impulse response filter and followed by a fast Fourier transform. The power of the oscillatory potential was calculated by determining the dominant frequency in the Fourier transformed response and expressed in microwatts. A group of normal subjects was compared with a group of early diabetic retinopathy patients. It appears that even in pathological circumstances a quantitative expression of the oscillatory potential is possible.

To study the oscillatory potentials in early diabetic retinopathy the authors developed a new power measurement based on the fast Fourier transform. Three groups totalling 46 patients were examined, varying from nonvisible to preproliferative diabetic retinopathy. The oscillatory potentials expressed in microwatts were measured under scotopic and photopic conditions. The data of the three groups are compared with those of a group of 22 normal individuals. The oscillatory potential power measurement appears to be a reliable method in detecting diabetic retinopathy at an early stage.

We used an oscillatory potential power method (a measure of the summed oscillatory potential activity) based on fast-Fourier transform analysis to study the oscillatory potentials in early diabetic retinopathy. The method was used in 29 diabetic patients with no ophthalmoscopically visible diabetic retinopathy, 29 diabetic patients with early signs only and 27 control subjects. The reduction in oscillatory potential power was compared with the reduction in the second and third oscillatory potential amplitudes and increase in implicit time in the diabetic patients. The amplitude of the second oscillatory potential was slightly more resistant to diabetic retinopathy than was the amplitude of the third oscillatory potential. Because the oscillatory potentials were detected by means of a high-resolution technique, their implicit times seem to be as discriminating as the oscillatory potential power in the detection of early diabetic retinopathy.

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