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A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect

Published online by Cambridge University Press:  06 September 2006

KAREN L. GUNTHER ,
JAY NEITZ  and
MAUREEN NEITZ
KAREN L. GUNTHER
Affiliation:
Department of Ophthalmology and Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin
JAY NEITZ
Affiliation:
Department of Ophthalmology and Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin
MAUREEN NEITZ
Affiliation:
Department of Ophthalmology and Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin
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Abstract

Inherited tritan color vision deficiency is caused by defects in the function of the short-wavelength-sensitive (S) cones. This heterozygous group of disorders has an autosomal dominant pattern of inheritance. Amino acid variations of the S cone opsin are rare and all that have been identified thus far are associated with inherited tritan color vision defects. Here we report the identification of a 30-year-old male who made errors on standard color vision tests consistent with the presence of a mild tritan color vision deficiency. We tested the hypothesis that his color vision impairment was due to a mutation in the S cone photopigment gene. He was found to be heterozygous for a mutation that caused the amino acid proline to be substituted in place of a highly conserved leucine at amino acid position 56 in the S cone opsin. This mutation was absent in 564 S cone photopigment genes from 282 subjects who did not make tritan errors. Thus, we conclude that this mutation disrupts the normal function of S cones.

Keywords

Inherited tritanopiaS-cone opsin mutationPhotopigmentColor vision
Type
GENETICS
Information
Visual Neuroscience , Volume 23 , Issue 3-4 , May 2006 , pp. 403 - 409
Copyright
© 2006 Cambridge University Press

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