Single-cone imaging in inherited and acquired colour vision deficiencies

Abstract

Colour vision deficiencies are common in humans and occur both as a consequence of inherited cone opsin mutations, altering the number or function of the different cone types expressed in the retina, and acquired through secondary disruption of cone function and structure. This review describes recent advances made in understanding colour vision deficiencies from combining knowledge about cone opsin genes with single-cone imaging in living humans. Examination of the effect of the opsin gene mutations upon the cone mosaic and colour vision phenotypes shows that not all inherited colour vision deficiencies are stationary and some inherited congenital eye diseases may cause impaired colour vision as a consequence of arrested development.