Electroretinograms in carriers of blue cone monochromatism.
We recorded full-field electroretinograms from seven female obligate carriers of X-linked blue cone monochromatism and eight daughters of obligate carriers. We observed that all obligate carriers had one or more of the following abnormalities: delayed cone b-wave implicit times to 30-Hz white flicker, loss of the a1 oscillation in responses to single flashes of white light under dark-adapted conditions, subnormal b-wave amplitudes to single flashes of white light under dark-adapted conditions, and subnormal cone responses to 30-Hz white flicker. All had normal rod responses to blue light. Three of eight daughters of obligate carriers had abnormal electroretinograms comparable to those recorded from obligate carriers. These obligate carriers have a partial but comparable deficiency of red and green cone function.
D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000235:genetics* / Q000503:physiopathology; D004596:Electroretinography; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D010775:Photic Stimulation / Q000379:methods; D010786:Photoreceptor Cells / Q000503:physiopathology*; D014960:X Chromosome