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Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family.

A genealogical link was established six generations back between a family living in England and Australia, and one of the families reported originally by Sorsby et al (1949) as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset--in the fifth decade of life--and the progress of the condition, which usually ends in blindness, has been observed in a number of patients and the prodromal development of a colour vision deficiency in some of them confirmed. This defect is fundamentally different from the X-linked colour vision defects and merits further investigation.

Aged

Color vision: blue deficiencies in children?

Recent publicized reports based on the use of the Farnsworth Panel D-15 test suggest that a large percentage of young children have a deficiency of blue vision (tritan type). In our study, 413 school children (ages 3 to 10) were tested with both the Farnsworth Panel D-15 test, as well as the A.O. H-R-R plates. None of the children failed either test for blue-yellow vision when traditional scoring instructions were observed. As in previous reports, we find that the children make a number of minor errors which adults rarely make. These errors show marked age-related patterns, being more frequent in younger children. However, further analysis of these errors revealed that the relative frequency with which particular error types were made on the D-15 test was significantly correlated with the existing perceived color difference data for the visually normal adult population. In addition, retesting significantly reduced all error types and reversing the test sequence demonstrated that most of the minor errors were made in the last half of the test regardless of the color vision task. The overall increase in the number of minor test errors seen with young children seems unrelated to color defects. The modified scoring methods in conjunction with the characteristics of the Panel D-15 test design account for the high percentage of errors classified as errors of blue vision.

Age Factors

Visually evoked potentials: theory, techniques and clinical applications.

The visually evoked potential (VEP), the recording of which has recently been made possible by the development of computer averaging techniques, is a gross electrical signal generated by the occipital region of the cortex in response to visual stimulation. It is more specific than the electroencephalogram (EEG) and more sensitive to changes in the visual stimulus; thus, it can provide ophthalmologists and vision researchers with information about the human visual system that is unavailable by other methods. Clinically, the VEP is of special value in the areas of refraction, infant acuity, diseases of the optic nerve, color blindness, amblyopia and field defects. Theory, techniques and instrumentation are described, and applications of the VEP to clinical situations and to vision research are discussed.

Adult

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