Format

Send to

Choose Destination
See comment in PubMed Commons below
Vis Neurosci. 2006 May-Aug;23(3-4):403-9.

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

Author information

1
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226-4812, USA.

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.

PMID:
16961973
DOI:
10.1017/S0952523806233169
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Cambridge University Press
    Loading ...
    Support Center