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

Abstract:

:Genetic analyses were performed on five male children (approximately 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.

journal_name

Vision Res

journal_title

Vision research

authors

Bieber ML,Werner JS,Knoblauch K,Neitz J,Neitz M

doi

10.1016/s0042-6989(98)00067-4

subject

Has Abstract

pub_date

1998-11-01 00:00:00

pages

3293-7

issue

21

eissn

0042-6989

issn

1878-5646

pii

S0042-6989(98)00067-4

journal_volume

38

pub_type

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