Color vision defects with variation in the exon 5 of red and green pigment genes

Abstract

Purpose: To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision defects.

Methods: Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal controls were analyzed by heteroduplux-SSCP analysis.

Results: In all 11 protans and 8 of the 19 deutans, defects of the red or green pigment gene could be identified. The C polymorphism (A/C at codon 283) in green pigment gene was present in 8 of 44 trichromats and 5 of 24 dichromats. Specific electrophoretic bands were found in 2 normal controls and a deutan.

Conclusions: Variation in the exon 5 of the red and green pigment genes is the most common cause for color vision defects. Heteroduplex-SSCP analysis is a suitable way in screening specific variation in visual pigment genes.