PURPOSE: The electro-oculogram (EOG) is a powerful test to evaluate the functional status of the retinal pigment epithelium (RPE). Clinically detectable changes of the RPE desribed in neurofibromatosis type 1 (NF-1) patients include combined hamartoma of the retina/RPE and congenital hypertrophy of the RPE. The goal of this study was to determine whether the function of RPE as measured by EOG is also changed in individuals with NF-1. PATIENTS: Studies were undertaken in 20 patients with clinically diagnosed NF-1 and compared to 16 normal healthy controls. METHODS: Standard EOG and flash ERG recordings were performed in accordance with 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 were present in 60% of NF-1 patients in comparison to the control group mean +2 SD. No one patient showed so high abnormalities during flash ERG examination. CONCLUSIONS: Dysfunction of the RPE may be characteristic feature of individuals with NF- 1.
PURPOSE: The electro-oculogram (EOG) is a powerful test to evaluate the functional status of the retinal pigment epithelium (RPE). Clinically detectable changes of the RPE desribed in neurofibromatosis type 1 (NF-1) patients include combined hamartoma of the retina/RPE and congenital hypertrophy of the RPE. The goal of this study was to determine whether the function of RPE as measured by EOG is also changed in individuals with NF-1. PATIENTS: Studies were undertaken in 20 patients with clinically diagnosed NF-1 and compared to 16 normal healthy controls. METHODS: Standard EOG and flash ERG recordings were performed in accordance with International Society for Clinical Electrophysiology of Vision (ISCEV) standards. RESULTS: In NF-1patients the Arden indexes of the EOG test were significantly higher primarily due to the lower values of dark troughs. Supernormal EOGs were present in 60% of NF-1patients in comparison to the control group mean +2 SD. No one patient showed so high abnormalities during flash ERG examination. CONCLUSIONS: Dysfunction of the RPE may be characteristic feature of individuals with NF- 1.
Authors: Wojciech Lubiński; Stanisław Zajaczek; Zbigniew Sych; Krzysztof Penkala; Olgierd Palacz; Jan Lubiński Journal: Hered Cancer Clin Pract Date: 2004-09-15 Impact factor: 2.857
Authors: Romain Touzé; Marc M Abitbol; Dominique Bremond-Gignac; Matthieu P Robert Journal: Invest Ophthalmol Vis Sci Date: 2022-04-01 Impact factor: 4.799