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

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.

• Authors: M Alpern, G H Sack Jr, D H Krantz, J Jenness, H Zhang, H W Moser
• Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 90 Issue 20 Pg. 9494-8 (Oct 15 1993) ISSN: 0027-8424 [Print] United States
• PMID: 8415729 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Topics

• Adrenoleukodystrophy (genetics, physiopathology)
• Color Perception (physiology)
• Gene Rearrangement
• Humans
• Male
• Sex Chromosome Aberrations (genetics)
• Time Factors
• X Chromosome (ultrastructure)