CHROMOSOMAL REARRANGEMENT SEGREGATING WITH ADRENOLEUKODYSTROPHY - ASSOCIATED CHANGES IN COLOR-VISION

A patient from a large kindred with adrenoleukodystrophy showed profou nd disturbance of color ordering, color matching, increment thresholds , and luminosity. Except for color matching, his performance was simil ar to blue-cone ''monochromacy,'' an X chromosome-linked recessive ret inal dystrophy in which color vision is dichromatic, mediated by the v isual pigments of rods and short-wave-sensitive cones. Color matching, however, indicated that an abnormal rudimentary visual pigment was al so present. This may reflect the presence of a recombinant visual pigm ent protein or altered regulation of residual pigment genes, due to DN A changes-deletion of the long-wave pigment gene and reorganized seque nces 5' to the pigment gene cluster-that segregate with the metabolic defect in this kindred.