title: Light and alcohol evoked electro-oculograms in cystic fibrosis.
abstract: Cystic fibrosis (CF) is caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) which is a chloride channel. CFTR is expressed in the retinal pigment epithelium (RPE) where it is believed to be important in generating the fast oscillations (FOs) and potentially contributing to the light-electro-oculogram (EOG). The role of CFTR in the alcohol-EOG is unknown. We recruited six individuals with CF (three homozygotes for Delta508 and three heterozygous for Delta508) and recorded the light- and alcohol-EOGs as well as the FOs and compared them to a control group. The results showed that in the CF group the amplitude of the alcohol- and light-EOGs were normal. However, the time to peak of the light- and alcohol-rises were significantly faster than in the control group. We conclude that CFTR is not primarily responsible for the alcohol- or light-rises but is involved in altering the timing of these responses. The FOs showed differences between the homozygotes, heterozygotes and the controls. The amplitudes were significantly higher and the time to the dark troughs were significantly slower in the heterozygote group compared to both controls and the homozygotes. In contrast, the homozygotes did not differ in either amplitude or the timing of the FOs compared to the controls.
authors.affiliation: Department of Optometry and Visual Science, Henry Wellcome Laboratories for Vision Sciences, City University, London, UK. p.a.constable@city.ac.uk
authors.forename: Paul A
authors.initials: PA
authors.lastname: Constable
authors.forename: John G
authors.initials: JG
authors.lastname: Lawrenson
authors.forename: Geoffrey B
authors.initials: GB
authors.lastname: Arden
mesh_terms: D000221:Adaptation, Ocular / Q000187:drug effects / Q000528:radiation effects; D000293:Adolescent; D000328:Adult; D002492:Central Nervous System Depressants / Q000494:pharmacology*; D003550:Cystic Fibrosis / Q000235:genetics / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004585:Electrooculography / Q000187:drug effects* / Q000528:radiation effects*; D000431:Ethanol / Q000494:pharmacology*; D005074:Evoked Potentials, Visual / Q000187:drug effects / Q000528:radiation effects; D005260:Female; D006801:Humans; D008027:Light; D008297:Male; D010857:Pigment Epithelium of Eye / Q000378:metabolism / Q000503:physiopathology*; D011379:Prognosis; D012720:Severity of Illness Index
chemical_list: C505032:CFTR protein, human; D002492:Central Nervous System Depressants; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D000431:Ethanol