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.
Highlights
Direct visualisation of single photoreceptor cells in eyes of living humans was achieved for the first time in 1999 [1], paving the way for a broader and deeper understanding of the cone mosaic and colour vision
Current Opinion in Behavioral Sciences 2019, 30:55–59 This review comes from a themed issue on Visual perception Edited by Hannah Smithson and John S Werner retina, revealing the structure of the inner segments of the cones. This is of significance, because remnant inner segments can be observed in conditions where cone opsin mutations render the outer segments dysfunctional or non-functional so that it cannot waveguide light properly
Single-cone imaging in living human eyes has allowed for major advancements in understanding the properties of the cone mosaic, the distribution and organisation of different cone types [4], structural and functional changes as a consequence of disruptions caused by genetic mutations or disease
Summary
Direct visualisation of single photoreceptor cells in eyes of living humans was achieved for the first time in 1999 [1], paving the way for a broader and deeper understanding of the cone mosaic and colour vision. Several systems have been developed over the years, but it is the multimodal version of AO scanning light ophthalmoscope (AOSLO), incorporating both confocal and non-confocal detection that has helped us make the most important discoveries [2,3]. Such a system allows for simultaneous imaging of both the confocal waveguided light from the outer segments and non-confocal backscattered light from the Studying the variation in cone photoreceptor mosaic in living humans with impaired colour vision There are three lines of work in the study of variations in the cone photoreceptor mosaic and colour vision deficiencies that we will focus on. We will mention the effect of other genetic mutations that arrest the development of the central parts of the retina, and the structure–perception correlations between single-cone imaging, optical www.sciencedirect.com
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