Department of Ophthalmology, Hamilton Eye Institute, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Department of Physiology, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Biomolecules. 2023 Feb 1;13(2):271. doi: 10.3390/biom13020271.
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. These diseases are most often the result of defects in rod and/or cone photoreceptor and retinal pigment epithelium function, development, or both. The genes associated with these diseases, when mutated, produce altered protein products that have downstream effects in pathways critical to vision, including phototransduction, the visual cycle, photoreceptor development, cellular respiration, and retinal homeostasis. The aim of this manuscript is to provide a comprehensive review of the underlying molecular mechanisms of pathogenesis of IRDs by delving into many of the genes associated with IRD development, their protein products, and the pathways interrupted by genetic mutation.
遗传性视网膜疾病（IRDs）是先天性视网膜退行性疾病，具有多种遗传模式，包括显性、隐性、X 连锁和线粒体。这些疾病通常是由于视杆细胞和/或视锥细胞以及视网膜色素上皮功能、发育或两者的缺陷引起的。与这些疾病相关的基因突变会产生改变的蛋白质产物，这些产物在下游对视觉至关重要的途径中产生影响，包括光转导、视觉循环、视锥细胞发育、细胞呼吸和视网膜内稳态。本文的目的是通过深入研究与 IRD 发展相关的许多基因、它们的蛋白质产物以及基因突变中断的途径，全面综述 IRD 发病机制的潜在分子机制。
