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. 2018 Aug 24;293(34):13016-13021.
doi: 10.1074/jbc.AW118.003228. Epub 2018 Jul 12.

Visual cycle proteins: Structure, function, and roles in human retinal disease

Andrew Tsin  1 , Brandi Betts-Obregon  2 , Jeffery Grigsby  3   4   5
Affiliations

Visual cycle proteins: Structure, function, and roles in human retinal disease

Andrew Tsin et al. J Biol Chem. .

Abstract

Here, we seek to summarize the current understanding of the biochemical and molecular events mediated by visual cycle molecules in the eye. The structures and functions of selected visual cycle proteins and their roles in human retinal diseases are also highlighted. Genetic mutations and malfunctions of these proteins provide etiological evidence that many ocular diseases arise from anomalies of retinoid (vitamin A) metabolism and related visual processes. Genetic retinal disorders such as retinitis pigmentosa, Leber's congenital amaurosis, and Stargardt's disease are linked to structural changes in visual cycle proteins. Moreover, recent reports suggest that visual cycle proteins may also play a role in the development of diabetic retinopathy. Basic science has laid the groundwork for finding a cure for many of these blindness-causing afflictions, but much work remains. Some translational research projects have advanced to the clinical trial stage, while many others are still in progress, and more are at the ideas stage and remain yet to be tested. Some examples of these studies are discussed. Recent and future progress in our understanding of the visual cycle will inform intervention strategies to preserve human vision and prevent blindness.

Keywords: genetic disease; membrane protein; metabolic disease; protein isomerase; vitamin A.

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Conflict of interest statement

The authors declare that they have no conflicts of interest with the contents of this article.

Figures

Figure 1.
Figure 1.
Classic (rod and cone photoreceptor) and the cone (cone photoreceptor) visual cycles.
See this image and copyright information in PMC

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