A study of women heterozygous for colour deficiencies

Vision Res. 1993 Jul;33(11):1495-508. doi: 10.1016/0042-6989(93)90143-k.


We have examined the colour vision of 43 female subjects in the age range 30-59 yr of whom 31 were obligate carriers of various forms of colour deficiency and the rest were women who had no known colour-deficient relatives. In the case of all the carriers we established the phenotypes of their colour-deficient sons. As a group, carriers made significantly more errors on the Ishihara plates and showed enlarged matching ranges on the Nagel anomaloscope, but we could not replicate earlier reports of increased error scores on the Farnsworth-Munsell 100-Hue test or of systematic shifts in Rayleigh match mid-points. We did find that the colour matches of carriers of deuteranomaly were significantly displaced from those of normals in a ratio-matching task in which a mixture of 546 and 600 nm was matched with a mixture of 570 and 690 nm. Owing to X-chromosome inactivation, women who are heterozygous for anomalous trichromacy ought to have at least four types of cone in their retinae and we ask whether this affords them an extra dimension of colour vision, by analogy to New World monkeys where heterozygous females gain trichromacy in a basically dichromatic species. Many carriers of anomalous trichromacy exhibited no evidence for tetrachromacy, in that they accepted large-field Rayleigh matches following a rod bleach and they were unable to set unique matches in our ratio-matching task. However, eight carriers of anomalous trichromacy--and no other subject--refused large-field Rayleigh matches; and we found one carrier of deuteranomaly who was apparently able to make unique matches in the ratio-matching task.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Color Perception / genetics*
  • Color Perception / physiology
  • Color Perception Tests
  • Color Vision Defects / genetics*
  • Color Vision Defects / physiopathology
  • Dosage Compensation, Genetic
  • Female
  • Heterozygote
  • Humans
  • Middle Aged