M- and L-cones in early infancy: III. Comparison of genotypic and phenotypic markers of color vision in infants and adults

Michelle L. Bieber, John S Werner, Kenneth Knoblauch, Jay Neitz, Maureen Neitz

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Genetic analyses were performed on five male children (~ 3 years), two suspect color-normals and three suspects for congenital color vision deficiencies. These classifications were based on visually-evoked potential (VEP) responses to M- and L-cone-isolating stimuli obtained in a previous study when each subject was either 4- or 8-weeks old. The present analyses were performed in a blind study to characterize the genotypes of these subjects. Four male adults with various color vision phenotypes were also tested as a control. DNA was isolated using a non-invasive technique followed by polymerase chain reaction (PCR) amplification and restriction enzyme analysis to examine the genomic DNA of each subject. The genetic analyses confirmed the VEP identification of two color defective infants, and were consistent with the diagnosis of two other infants as color normal. A third infant was predicted by VEP analysis to have a protan defect, but he did not have a gene array typically found in protan observers.

Original languageEnglish (US)
Pages (from-to)3293-3297
Number of pages5
JournalVision Research
Volume38
Issue number21
DOIs
StatePublished - Nov 1998
Externally publishedYes

Keywords

  • Color vision
  • Early infancy
  • Genotypic and phenotypic markers
  • M- and L-cones

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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