Retinal function in the von Hippel-Lindau disease. 2003

Wojciech Lubiński, and Karol Krzystolik, and Cezary Cybulski, and Zbigniew Szych, and Krzysztof Penkala, and Olgierd Palacz, and Jan Lubiński
Clinic of Ophthalmology, Pomeranian Academy of Medicine, Szczecin, Poland. lubinski@pro.onet.pl

OBJECTIVE To assess the retinal function in patients with von Hippel-Lindau disease (VHL). METHODS 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.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010364 Pattern Recognition, Visual Mental process to visually perceive a critical number of facts (the pattern), such as characters, shapes, displays, or designs. Recognition, Visual Pattern,Visual Pattern Recognition
D010775 Photic Stimulation Investigative technique commonly used during ELECTROENCEPHALOGRAPHY in which a series of bright light flashes or visual patterns are used to elicit brain activity. Stimulation, Photic,Visual Stimulation,Photic Stimulations,Stimulation, Visual,Stimulations, Photic,Stimulations, Visual,Visual Stimulations
D012160 Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. Ora Serrata
D004596 Electroretinography Recording of electric potentials in the retina after stimulation by light. Electroretinographies
D005260 Female Females
D006391 Hemangioma A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000) Angioma,Chorioangioma,Hemangioma, Histiocytoid,Hemangioma, Intramuscular,Chorangioma,Chorangiomas,Chorioangiomas,Hemangiomas,Hemangiomas, Histiocytoid,Hemangiomas, Intramuscular,Histiocytoid Hemangioma,Histiocytoid Hemangiomas,Intramuscular Hemangioma,Intramuscular Hemangiomas
D006623 von Hippel-Lindau Disease An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. Cerebelloretinal Angiomatosis, Familial,Lindau Disease,Angiomatosis Retinae,Familial Cerebello-Retinal Angiomatosis,Hippel-Lindau Disease,Lindau's Disease,VHL Syndrome,von Hippel-Lindau Syndrome,Angiomatoses, Familial Cerebello-Retinal,Angiomatoses, Familial Cerebelloretinal,Angiomatosis, Familial Cerebello-Retinal,Angiomatosis, Familial Cerebelloretinal,Cerebello-Retinal Angiomatoses, Familial,Cerebello-Retinal Angiomatosis, Familial,Cerebelloretinal Angiomatoses, Familial,Familial Cerebello Retinal Angiomatosis,Familial Cerebello-Retinal Angiomatoses,Familial Cerebelloretinal Angiomatoses,Familial Cerebelloretinal Angiomatosis,Hippel Lindau Disease,Lindau's Diseases,Lindaus Disease,VHL Syndromes,von Hippel Lindau Disease,von Hippel Lindau Syndrome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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