Genetic Testing as a New Standard for Clinical Diagnosis of Color Vision Deficiencies.

ABSTRACT:

Purpose

The genetics underlying inherited color vision deficiencies is well understood: causative mutations change the copy number or sequence of the long (L), middle (M), or short (S) wavelength sensitive cone opsin genes. This study evaluated the potential of opsin gene analyses for use in clinical diagnosis of color vision defects.

Methods

We tested 1872 human subjects using direct sequencing of opsin genes and a novel genetic assay that characterizes single nucleotide polymorphisms (SNPs) using the MassArray system. Of the subjects, 1074 also were given standard psychophysical color vision tests for a direct comparison with current clinical methods.

Results

Protan and deutan deficiencies were classified correctly in all subjects identified by MassArray as having r

SUBMITTER: Davidoff C 

PROVIDER: S-EPMC5017313 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature