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Topographical cone photopigment gene expression in deutan-type red-green color vision defects.

Eye donors were identified who had X-chromosome photopigment gene arrays like those of living deuteranomalous men; the arrays contained two genes encoding long-wavelength sensitive (L) pigments as well as genes to encode middle-wavelength sensitive (M) photopigment. Ultrasensitive methods failed to detect the presence of M photopigment mRNA in the retinas of these deutan donors. This provides direct evidence that deuteranomaly is caused by the complete absence of M pigment mRNA. Additionally, for those eyes with mRNA corresponding to two different L-type photopigments, the ratio of mRNA from the first vs. downstream L genes was analyzed across the retinal topography. Results show that the pattern of first relative to downstream L gene expression in the deuteranomalous retina is similar to the pattern of L vs. M gene expression found in normal retinas.

Adolescent↗

[Visual pigment genes for color vision defects].

Applying recombinant DNA techniques, the structures of red pigment gene (RPG) and green pigment gene (GPG) were analyzed for 43 patients with protan or deutan (including 3 females), 4 normal relatives and 3 carriers out of 3 families, as well as 11 normal controls. Abnormality of RPG was detected in all 19 protan and that of GPG was found in 14 out of 24 deutan. In about 80% (32/40) of protan and deutan the changing of exon 5 for RPG or GPG was discovered. In protan the normal RPG was replaced by a 5' red -3' green hybrid gene. Some of the deutan had no GPG, some had 5' green -3' red hybrid gene with or without GPG. Furthermore, the exon 5 of RPG and GPG was amplified by polymerase chain reaction (PCR) and further analyzed by Rsa I digestion. The results for PCR are identical to that of Southern blot hybridization.

Chromosome Deletion↗

Color vision in the peripheral retina under photopic conditions.

Chromaticities of spectral colors were measured during the cone-plateau period at 17 degrees, 25 degrees, 40 degrees and 60 degrees in the nasal field of view and at 40 degrees and 70 degrees in the temporal field. The results obtained in the nasal field show a progressive contraction of the color gamut with distance from the fovea with maximum shrinkage in the middle-wave region. Color discrimination in the temporal field of view was found to be much better developed than in the nasal field. Thus, all the primary hues were clearly observable at 70 degrees temporally. The exceptionally good color discrimination obtained in the present study is explained on the assumption that only cones are effectively excited upon stimulation during the cone-plateau period.

Adaptation, Ocular↗

[The progeny of the two protan and deutan families described by Franceschetti and Klein (1949, 1956), one generation later. Genealogy, color vision and genomic DNA].

The progeny of the couple of which the husband was protanope and the wife deuteranope (Franceschetti, 1949) has been examined (3 generations) in 1986 and 1987. This couple had 4 children, of which 3 sons are deutan and 1 daughter, a double carrier, is phenotypically normal. This girl, in her turn and in exemplary fashion, has 3 children: 1 daughter, being simple carrier, is phenotypically normal, 1 son is protan and 1 son deutan. The study of the genomic DNA of 3 normal subjects reveals the presence of two genes responsible for green and one gene responsible for red; the genomic DNA of a protanomalous subject shows a modification of the gene for red, while that of two deuteranopes shows absence of genes responsible for green. The descent of the second couple in which the husband was deuteranope and the wife protanope (Franceschetti and Klein, 1956) is exclusively of female sex. Therefore it comprises only phenotypically normal persons.

Chromosome Mapping↗

[Acquired color vision disturbances as a sensitive marker of chronic exposure to petroleum derivatives].

The Farnsworth-Munsell 100 Hue test was used to examine 75 males aged 25-60 years before and after a break in exposure to petroleum derivatives and 30 males non-occupationally involved in the petrochemical industry. Acquired colour vision disturbances were found in 29% of those under study before and in 16% after a break in exposure and rest while in the control group they were diagnosed in 17% of subjects before and in 7% after rest. Remission of acquired dyschromatopsia of the blue and yellow axis was most commonly observed. This kind of disturbances accounted for 70% out of all disorders found in the basic group and they represented the only kind of disorders detected in the controls. An observed tendency towards remission of disturbances in the blue and yellow axis indicates a functional nature of the visual analyzer damage. Dyschromatopsia of the blue and yellow axis with concomitant disturbances in the red and green axis or without specified axis is more persistent and may indicate an organic damage of the route that transmits information about colours.

Adult↗

Computerized scoring and graphing of the Farnsworth-Munsell 100-hue color vision test.

The Farnsworth-Munsell 100-hue test is a sensitive and accurate test of color discrimination. A major disadvantage of the test is the laborious and time-consuming calculation needed to score the results and plot them on a chart for interpretation. We present a computer program, written in Microsoft's BASIC language, that performs the calculation and reports both the individual color cap error scores (from which the graph is plotted) and the total error score. If used with an IBM personal computer (or compatible) capable of graphics, the program plots a graph in a modified polar coordinate format that can be printed on a dot-matrix printer.

Color Perception↗