Electro-oculogram in patients with neurofibromatosis type 1.
OBJECTIVE
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.


METHODS
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.
Lubiński
W
W
Clinic of Ophthalmology, Pomeranian Academy of Medicine, Szczecin, Poland. lubinski@pro.onet.pl
Zajaczek
S
S
Sych
Z
Z
Penkala
K
K
Palacz
O
O
Lubiński
J
J
D000328:Adult; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000503:physiopathology*; D010775:Photic Stimulation; D010857:Pigment Epithelium of Eye / Q000503:physiopathology*