Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.
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.
Alpern
M
M
Department of Ophthalmology, University of Michigan, Ann Arbor 48109.
Sack
G H
GH
Krantz
D H
DH
Jenness
J
J
Zhang
H
H
Moser
H W
HW
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000503:physiopathology*; D003118:Color Perception / Q000502:physiology*; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013997:Time Factors; D014960:X Chromosome / Q000648:ultrastructure