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Retinal function in the von Hippel-Lindau disease.
Wojciech Lubiński1, Karol Krzystolik, Cezary Cybulski
1Clinic of Ophthalmology, Pomeranian Academy of Medicine, Szczecin, Poland. lubinski@pro.onet.pl
Documenta Ophthalmologica. Advances in Ophthalmology
|May 10, 2003
Summary
Retinal function is impaired in von Hippel-Lindau disease (VHL) patients, even those without visible retinal tumors. Electrophysiological tests reveal inner retinal layer dysfunction in VHL, indicating early functional changes.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Von Hippel-Lindau (VHL) disease is a genetic disorder associated with tumor formation.
- Retinal involvement is a known manifestation of VHL disease.
Purpose of the Study:
- To evaluate retinal function in patients with VHL disease.
- To identify electrophysiological changes indicative of retinal dysfunction in VHL.
Main Methods:
- Pattern electroretinogram (PERG) and standard flash electroretinogram (ERG) were performed.
- Studies included 12 patients with VHL gene mutation and 12 healthy controls.
Main Results:
- VHL patients showed statistically significant electrophysiological changes.
- Increased P50 latency in PERG and increased photopic b-wave latency in ERG were observed.
- Optic potentials (OPs) analysis revealed altered latencies and amplitudes in VHL patients.
Conclusions:
- Inner retinal layer dysfunction is present in VHL disease.
- These functional changes occur even in VHL patients without retinal angiomas.
- Electrophysiology can detect subclinical retinal dysfunction in VHL.