Abstract：
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.
摘要：
遗传性视网膜营养不良（IRD）是先天性视网膜退行性疾病，具有多种遗传模式，包括支配性的,隐性,X-linked,和线粒体。这些疾病通常是由于视杆和/或视锥细胞的光感受器和视网膜色素上皮细胞功能缺陷所致，发展,或者两者兼而有之。与这些疾病相关的基因，当变异时，产生改变的蛋白质产物，这些产物在对视觉至关重要的途径中具有下游作用，包括光传导，视觉周期，光感受器发育，细胞呼吸，和视网膜稳态.本手稿的目的是通过深入研究与IRD发育相关的许多基因，对IRD发病机理的潜在分子机制进行全面综述。他们的蛋白质产品，以及被基因突变打断的通路。
