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Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9494-8.

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

Author information

1
Department of Ophthalmology, University of Michigan, Ann Arbor 48109.

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.

PMID:
8415729
PMCID:
PMC47595
DOI:
10.1073/pnas.90.20.9494
[Indexed for MEDLINE]
Free PMC Article

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