Cholesterol is a quantitatively and biologically significant constituent of all mammalian cell membrane, including those that comprise the retina. Retinal cholesterol homeostasis entails the interplay between de novo synthesis, uptake, intra-retinal sterol transport, metabolism and efflux. Defects in these complex processes are associated with several congenital and age-related disorders of the visual system. Herein, we provide an overview of the following topics: a) cholesterol synthesis in the neural retina; b) lipoprotein uptake and intraretinal sterol transport in the neural retina and the retinal pigment epithelium (RPE); c) cholesterol efflux from the neural retina and the RPE; and d) biology and pathobiology of defects in sterol synthesis and sterol oxidation in the neural retina and the RPE. We focus, in particular, on studies involving animal models of monogenic disorders pertinent to the above topics, as well as in vitro models using biochemical, metabolic, and omic approaches. We also identify current knowledge gaps as well as opportunities in the field that beg further research in this topic area.

中文翻译：

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脊椎动物视网膜中的胆固醇稳态：生物学和病理学。

胆固醇是所有哺乳动物细胞膜（包括构成视网膜的细胞膜）的定量和生物学重要成分。视网膜胆固醇稳态涉及从头合成、摄取、视网膜内甾醇转运、代谢和流出之间的相互作用。这些复杂过程的缺陷与视觉系统的几种先天性和年龄相关的疾病有关。在此，我们概述了以下主题：a）神经视网膜中的胆固醇合成；b) 神经视网膜和视网膜色素上皮 (RPE) 中的脂蛋白摄取和视网膜内甾醇转运；c) 胆固醇从神经视网膜和 RPE 流出；d) 神经视网膜和视网膜色素上皮中甾醇合成和甾醇氧化缺陷的生物学和病理学。我们特别关注，涉及与上述主题相关的单基因疾病动物模型的研究，以及使用生化、代谢和组学方法的体外模型。我们还确定了当前的知识差距以及该领域需要进一步研究的机会。