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. 1993 Oct 15;90(20):9494–9498. doi: 10.1073/pnas.90.20.9494

Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.

M Alpern 1, G H Sack Jr 1, D H Krantz 1, J Jenness 1, H Zhang 1, H W Moser 1
PMCID: PMC47595  PMID: 8415729

Abstract

A patient from a large kindred with adrenoleukodystrophy showed profound disturbance of color ordering, color matching, increment thresholds, and luminosity. Except for color matching, his performance was similar to blue-cone "monochromacy," an X chromosome-linked recessive retinal dystrophy in which color vision is dichromatic, mediated by the visual pigments of rods and short-wave-sensitive cones. Color matching, however, indicated that an abnormal rudimentary visual pigment was also present. This may reflect the presence of a recombinant visual pigment protein or altered regulation of residual pigment genes, due to DNA changes--deletion of the long-wave pigment gene and reorganized sequences 5' to the pigment gene cluster--that segregate with the metabolic defect in this kindred.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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