线粒体
氧化磷酸化
神经科学
线粒体DNA
细胞器
视网膜
生物
表型
粒线体疾病
医学
细胞生物学
生物信息学
病理
遗传学
生物化学
基因
作者
Eli Kisilevsky,Paul A. Freund,Edward Margolin
标识
DOI:10.1016/j.survophthal.2019.11.001
摘要
Abstract
Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many disorders with variable inheritance, heterogeneity of systems involved, and varied phenotype. Metabolically active tissues are more likely to be affected, causing an anatomic and physiologic disconnect in the treating physicians' mind between presentation and underlying pathophysiology. We shall focus on disorders of mitochondrial metabolism relevant to an ophthalmologist. These disorders can affect all parts of the visual pathway (crystalline lens, extraocular muscles, retina, optic nerve, and retrochiasm). After the introduction reviewing mitochondrial structure and function, each disorder is reviewed in detail, including approaches to its diagnosis and most current management guidelines.
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