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

Vis Neurosci. 2006 May-Aug;23(3-4):403-9. doi: 10.1017/S0952523806233169.

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.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Color Perception / physiology
  • Color Perception Tests / methods
  • Color Vision Defects / genetics*
  • Color Vision Defects / physiopathology
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Leucine / genetics
  • Male
  • Mass Screening / methods
  • Models, Molecular
  • Mutation*
  • Proline / genetics
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Rod Opsins / genetics*

Substances

  • RNA, Messenger
  • Rod Opsins
  • short-wavelength opsin
  • Proline
  • Leucine