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Open Access Research

Supernormal Electro-Oculograms in Patients with Neurofibromatosis Type 1

Wojciech Lubiński1*, Stanisław Zajączek2, Zbigniew Sych3, Krzysztof Penkala14, Olgierd Palacz1 and Jan Lubiński2

Author Affiliations

1 Clinic of Ophthalmology, Pomeranian Medical University, Szczecin, Poland

2 International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland

3 Department of Hygiene and Epidemiology, Pomeranian Medical University, Szczecin, Poland

4 Institute of Electronics, Telecommunications and Computer Technology, Technical University of Szczecin, Poland

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Hereditary Cancer in Clinical Practice 2004, 2:193-196  doi:10.1186/1897-4287-2-4-193

Published: 15 September 2004

Abstract

Purpose

To asses the retinal pigment epithelium (RPE) function measured by EOG testing in patients with neurofibromatosis type 1 (NF-1). Our preliminary EOG results suggested dysfunction of the RPE in individuals with NF-1. In order to confirm our initial results we performed EOG examination on a larger group of NF-1 patients.

Patients

Studies were performed on 36 patients with clinically diagnosed NF-1 and compared to normal healthy controls.

Methods

Standard EOG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards.

Results

In NF-1 patients the Arden indexes of the EOG test were significantly higher primarily due to the lower values of dark troughs. Supernormal EOGs (exceeding the value of the mean + 2 SD from the control group) were present in 58% of NF-1 patients.

Conclusions

Dysfunction of the RPE is a characteristic feature of individuals with NF-1.

Keywords:
electro-oculogram; neurofibromatosis type 1; retinal pigment epithelium