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Molecular basis of abnormal red-green color vision: a family with three types of color vision defects.

The molecular nature of three different types of X-linked color-vision defects, protanomaly, deuteranomaly, and protanopia, in a large 3-generation family was determined. In the protanomalous and protanopic males the normal red pigment gene was replaced by a 5' red-3' green fusion gene. The protanomalous male had more red pigment DNA in his fusion gene than did the more severely affected protanopic individual. The deuteranomalous individual had four green pigment genes and one 5' green-3' red fusion gene. These results extend those of Nathans et al., who proposed that most red-green color-vision defects arise as a result of unequal crossing-over between the red and green pigment genes. The various data suggest that differences in severity of color-vision defects associated with fusion genes are caused by differences in crossover sites between the red and green pigment genes. Currently used molecular methodology is not sufficiently sensitive to define these fusion points accurately, and the specific color-vision defect within the deutan or protan class cannot be predicted. The DNA patterns for color-vision genes of female heterozygotes have not previously been described. Patterns of heterozygotes may not be distinguishable from those of normals. However, a definite assignment of the various color pigment gene arrays could be carried out by family study. Two compound heterozygotes for color-vision defects who tested as normal by anomaloscopy were found to carry abnormal fusion genes. In addition, a normal red pigment gene was present on one chromosome and at least one normal green pigment gene was present on the other.(ABSTRACT TRUNCATED AT 250 WORDS)

Blotting, Southern↗

Design, chemical synthesis, and expression of genes for the three human color vision pigments.

Color vision in humans is mediated by three pigments from retinal cone photoreceptor cells: blue, green, and red. We have designed and chemically synthesized genes for each of these three pigments. The genes were expressed in COS cells, reconstituted with 11-cis-retinal chromophore, and purified to homogeneity using an immunoaffinity procedure. To facilitate the immunoaffinity purification, each pigment was modified at the carboxy terminus to contain an additional eight amino acid epitope for a monoclonal antibody previously used to purify bovine rhodopsin. The spectra for the isolated pigments had maxima of 424, 530, and 560 nm, respectively, for the blue, green, and red pigments. These maxima are in excellent agreement with the maxima previously observed by microspectrophotometry of individual human cone cells. The spectra are the first to be obtained from isolated human color vision pigments. They confirm the original identification of the three color vision genes, which was based on genetic evidence [Nathans, J., Thomas, D., & Hogness, D.S. (1986) Science 232, 193].

Amino Acid Sequence↗

New color vision tests to evaluate faulty color recognition.

PURPOSE: To develop and assess new color vision tests to be used in evaluating faulty color recognition. METHODS: We developed new color vision tests to evaluate faulty color recognition. The two types of color vision tests, designed to assess faulty color recognition in color vision deficiencies, are based on principles that are different from those of the conventional color vision tests. In the first test plate, the subject is asked to choose either a red, green, or gray line from among 10 lines that are randomly colored red, green, gray, yellow, or blue. The score is the difference between the number of correct answers and the number of incorrect answers. In the second test plate, the subject is asked to identify a total of 10 red azalea blossoms, which are dispersed among numerous green leaves. Seventy-five persons with congenital color deficiencies and 20 subjects with normal color vision were examined using these new test plates. RESULTS: The scores differed significantly between dichromats and anomalous trichromats, and between anomalous trichromats and subjects with normal color vision. CONCLUSIONS: The new tests are easy to use, sensitive, and have good reproducibility for use in discriminating subjects with color vision anomalies. These tests reveal the faulty color recognition that occurs unconsciously in persons with color deficiencies, and are useful in judging the quantification of color vision required in their daily life and occupations.

Adolescent↗

[Study on color misnaming among the congenital color vision anomalous--Part 3. Color misnomers and collation].

The test colors misnamed were grouped into two in their collation, i.e., R-G and BG-RP. Isochromatic collation was found in 75% of the subjects with normal color vision, 38.3% of those with protanopia, and 33% of those with deutanopia. In the hue collation isochromatic collation was seen most frequently, followed by neighborhood color collation. The more the misnomers, the further separated the hue collation, then the misnaming territory enlarged crossing over the achromatic confusion line, and the collation territory enlarged. The lightness collation was about equal between subjects with abnormal color vision and normal subjects. The former were inferior to the latter by 2% (deutan) and 4% (protan) in isosaturation collation. When the misnomer crossed the isochromatic line or collated near the white point, the date were analysed according to the color cunfusion theory. The subjects with abnormal color vision showed hue collation inferior to that of normal subjects, but they responded with twice the accuracy in the isochromatic collation than the misnomer collation, and the collation territory was narrow and simple.

Adult↗

Color vision and dentistry.

Color vision is a critical component of restorative and esthetic dentistry, but dentists, as a group, do not have their color vision tested at any time during their careers. A study was undertaken to ascertain the color-vision status of practicing dental personnel at the University of Tennessee, College of Dentistry. One hundred fifty individuals, 75 men and 75 women, were screened. The results corroborated the existing medical data for the general population. It was found that 9.3% of the men and none of the women exhibited color-vision defect. Since most dentists are male, this study demonstrates an area of potential weakness for some practitioners. Once a color-vision problem is found, it is simple to remedy by employing a team approach to shade matching or mechanical means of matching shades (by the practitioner). No ethnic or racial distinctions were detected, although these have been reported in other studies.

Adult↗