A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect.
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.
Gunther
Karen L
KL
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226-4812, USA.
Neitz
Jay
J
Neitz
Maureen
M
D000328:Adult; D003118:Color Perception / Q000502:physiology; D003119:Color Perception Tests / Q000379:methods; D003117:Color Vision Defects / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008403:Mass Screening / Q000379:methods; D008958:Models, Molecular; D009154:Mutation; D011392:Proline / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D017299:Rod Opsins / Q000235:genetics*
D012333:RNA, Messenger; D017299:Rod Opsins; C095853:short-wavelength opsin; D011392:Proline; D007930:Leucine