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Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden.

Two families from northern Sweden with a total of 8 patients with typical symptoms of congenital achromatopsia with amblyopia were studied. In one of the families 4 affected children (3 brothers and 1 sister) also showed pallor of the optic discs and marked astigmatism. The transmission of the disease was consistent with an autosomal recessive inheritance in both families. The study confirmed that complete and incomplete achromatopsia might be different expressions of the same gene. Six out or 13 near relatives of the achromatic patients showed minor colour vision defects, suggesting a tendency towards heterozygotic manifestation of the gene.

Adolescent

Vision screening in a national sample of 11-year-old children.

This report describes the results of vision screening carried out by local health authorities on a national sample of 11-year-old schoolchildren using a standard Snellen chart. Of the 12 772 children tested, 78% had an unaided distant visual acuity of 6/6 or better in both eyes (optimal vision), 10% had a distant visual acuity of 6/9 in the worse or both eyes (near-optimal vision) and 12% had a visual acuity of 6/12 or worse in one or both eyes eyes (definite visual defect). In addition, near visual acuity was tested for 12 737 children and 5% were found to have defective near vision. Glasses had been prescribed for current use in 12% of children but a quarter of those prescribed glasses did not have them available at the time of the test. Testing revealed that 22% of children whose glasses were available had optimal or near-optimal unaided distant vision, the number increasing to 98% when retested wearing glasses. In contrast, 43% of the children who were without their glasses had optimal or near-optimal vision; 27% had a bilateral defect. Amongst the children for whom glasses had not been prescribed 4-6% had a visual defect. A higher proportion of children from non-manual family background than from manual family background had visual impairment and had been prescribed glasses, but there was no significant social class difference amongst the children with visual defects for whom no glasses had been prescribed. A defect of red/green colour vision was recorded in 6% of boys and 1% of girls. The proportion of children with poor visual acuity was similar in the group of children with defective colour vision and the group with normal colour vision.

Child

Blue cone function in a family with an inherited tritan defect, tested with electroretinography and psychophysics.

The sensitivity of the blue cone system to low frequency flicker was tested with a psychophysical and an electroretinographical method. With the psychophysical method the subjects, members of a family with an inherited tritan defect, showed no sign of the presence of the blue cone system. With the electroretinogram the sensitivity was also significantly lower than in normal subjects, thus indicating a retinal origin of the tritan defect.

Adolescent

New data on the vision of South American Indians.

A total of 466 males and 437 females from four Brazilian Indian tribes were tested for color blindness with Ishihara's plates. Defective persons were found in three of the four tribes, but when these and other groups are considered the evidence suggests that the frequency of this trait is lower among Amerindians than among Caucasian populations. Visual acuity tests were performed on 296 Yanomama Indians. Their visual acuity was apparently not as sharp as that of the Cayapo or Xavante. But the scarcity among the Yanomama of persons with serious visual impairment of subcutaneous nodules suggests that the focus of onchocerciasis discovered among them is of recent origin.

Adolescent

Unilateral colour vision defect resembling tritanopia.

A case of unilateral tritan defect is described. Colour-naming experiments showed that the tritanopic eye could perceive multiple colour hues. Although the defect resembled congenital tritanopia, it was considered to be acquired secondary to retinal pathology.

Adult

Cone dystrophy and supernormal dark-adapted b-waves in the electroretinogram.

A male patient suffering from cone dystrophy was followed over 9 years. In addition to the typical clinical and electrophysiologic signs, supernormal b-waves were found in the dark-adapted electroretinogram. Our case is compared with 12 similar patients described in the literature. Our patient differed from the other patients in the following aspects: he was male and had a congenital stationary disease with a small pigment epithelial scar in the left eye only and no other fundus changes up to the age of 22 years. He did not complain of night blindness. The dark-adapted electroretinogram of our patient showed a normal b-wave threshold with increased b-wave amplitudes and markedly prolonged b-wave latencies and implicit times. This combination of signs has not been reported to date in any other patient and points towards a postreceptoral defect of the interneuronal connection.

Adolescent

Examination of colour vision by use of induced contrast colours. Design of a new series of tissue paper contrast tests.

The ability to induce contrast colours is evident in normal persons by the tissue paper contrast principle. However, tests of good quality are not easily available. The design of a new series of charts follows two principles: 1) Selection of background hues in accordance with the maximally desaturated regions of the spectrum as seen by the colour defectives. 2) Exact adjustment of the neutral test field (constituted by the chart figures) in order to eliminate any false clue due to brightness contrasts. By introducing chart figures of alternative grey values appropriate tests can be attained for each type of colour vision defect. 37 persons with congenital colour defect and 15 persons with acquired defects were examined. The charts, according to the criteria for selection, proved to be selective in their screening efficiency.

Adolescent

Color vision testing.

1. Color deficiency occurs in about 8% of the population, due to alterations in the chemistry of one of the three receptive pigments for colored light, or the substitution of one pigment for another in the photoreceptor cones. 2. Subjects with pigment alteration can see a broad range of color; those with substitution of one pigment for another have broad areas of color perception defect. 3. The most common tests are pseudoisochromatic (color confusion) plates, designed with patterns hidden to the color deficient. Other tests use colored caps, tracing patterns, or an anomaloscope.

Color Vision Defects

A clinicopathologic study of autosomal dominant optic atrophy.

Of a family with 40 members, 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the first decade. Visual loss was moderate to severe, 6/12 (20/40) to 3/60 (10/200). The affected members showed similar centrocecal scotomata. Most affected patients had severe unclassified color defects. Electroretinography measurements were normal in all but one patient who had a small reduction in the scotopic response. The pathologic changes in a patient with autosomal dominant optic atrophy showed diffuse atrophy of the ganglion cell layer of the retina with a loss of myelin and nerve tissue within the optic nerves. We suggest that autosomal dominant atrophy is a primary degeneration of retinal ganglion cells.

Adult