Comparison of genetic and phenotypic markers of color vision in infants and adults

M. L. Bieber, A. Smollen, K. Knoblauch, M. Neitz, J. Neitz, John S Werner

Research output: Contribution to journalArticle

Abstract

Purpose. In previous studies we have shown that 4- and 8-week-old infants demonstrate visually-evoked potential (VEP) responses to M- and L-cone isolating stimuli. While most infants displayed relatively similar VEP responses to both Mand L-cone isolation, four male infants demonstrated strong responses to only one cone-isolating stimulus (either M or L), displaying little or no response to the other. Based on these data, as well as verbal reports of a maternal history of color vision deficiency, these infants were classified as suspect color defective. As a follow-up, genetic analyses were performed on 3 of these infants, 2 suspect color-normal infants and 4 adults to evaluate the ratio of L:M cone photopigment genes from each individual. Methods. A non-invasive genomic DNA-isolation technique was used to collect samples of cheek cells from 4 adults (with various diagnoses of color vision) and 5 infants. PCR amplification and restriction analysis were used to examine the genomic DNA from each subject. Results. There was significant but imperfect agreement between the pheno- and genotypic classification (κ=0.67; p=0.003). Genotypic classification for each adult was consistent with the phenotype. Two of the suspect color defective infants had a single X-chromosome pigment gene and were, thus, obligate dichromats. For the two suspect color-normal infants, one displayed a genotype consistent with a normal phenotype and the other with a protan phenotype. One infant suspect for a protan defect appeared to have pigment genes that would be unexpected for a protan defect. Conclusions. We find a significani correspondence between genetic and phenotypic markers. These data provide additional evidence for the functioning of M- and L-cones as early as 4-weeks. The receptor-isolation technique seems capable of identifying color deficient infants as young as 4-weeks.

Original languageEnglish (US)
JournalInvestigative Ophthalmology and Visual Science
Volume38
Issue number4
StatePublished - 1997
Externally publishedYes

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Color Vision
Genetic Markers
Color Vision Defects
Color
Phenotype
Evoked Potentials
X-Linked Genes
Cheek
DNA
Genes
Genotype
Mothers

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Comparison of genetic and phenotypic markers of color vision in infants and adults. / Bieber, M. L.; Smollen, A.; Knoblauch, K.; Neitz, M.; Neitz, J.; Werner, John S.

In: Investigative Ophthalmology and Visual Science, Vol. 38, No. 4, 1997.

Research output: Contribution to journalArticle

Bieber, M. L. ; Smollen, A. ; Knoblauch, K. ; Neitz, M. ; Neitz, J. ; Werner, John S. / Comparison of genetic and phenotypic markers of color vision in infants and adults. In: Investigative Ophthalmology and Visual Science. 1997 ; Vol. 38, No. 4.
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abstract = "Purpose. In previous studies we have shown that 4- and 8-week-old infants demonstrate visually-evoked potential (VEP) responses to M- and L-cone isolating stimuli. While most infants displayed relatively similar VEP responses to both Mand L-cone isolation, four male infants demonstrated strong responses to only one cone-isolating stimulus (either M or L), displaying little or no response to the other. Based on these data, as well as verbal reports of a maternal history of color vision deficiency, these infants were classified as suspect color defective. As a follow-up, genetic analyses were performed on 3 of these infants, 2 suspect color-normal infants and 4 adults to evaluate the ratio of L:M cone photopigment genes from each individual. Methods. A non-invasive genomic DNA-isolation technique was used to collect samples of cheek cells from 4 adults (with various diagnoses of color vision) and 5 infants. PCR amplification and restriction analysis were used to examine the genomic DNA from each subject. Results. There was significant but imperfect agreement between the pheno- and genotypic classification (κ=0.67; p=0.003). Genotypic classification for each adult was consistent with the phenotype. Two of the suspect color defective infants had a single X-chromosome pigment gene and were, thus, obligate dichromats. For the two suspect color-normal infants, one displayed a genotype consistent with a normal phenotype and the other with a protan phenotype. One infant suspect for a protan defect appeared to have pigment genes that would be unexpected for a protan defect. Conclusions. We find a significani correspondence between genetic and phenotypic markers. These data provide additional evidence for the functioning of M- and L-cones as early as 4-weeks. The receptor-isolation technique seems capable of identifying color deficient infants as young as 4-weeks.",
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