CAJ | 학술논문

视锥-视杆营养不良（ CoRD ）是一类以黄斑区先出现光感受器细胞萎缩凋亡的遗传性眼底疾病，视锥视杆相继受损并且以视锥细胞受损为主。 CoRD部分进展型病例的视网膜萎缩范围可随病程逐渐扩大至视网膜周边部。其遗传方式包括常染色体隐性遗传（ arCoRD），常染色体显性遗传（ adCoRD），X-染色体连锁遗传（ CoRD 3）。随着基因检测技术的发展和普及，目前已经定位的突变基因有21个。本文主要就各个基因所表达的蛋白功能归类，探讨CoRD发病的可能机制作一综述。 CoRD的生化分子机制大致可分为以下5类：光传导通路、视网膜代谢、视网膜组织的发育和维持、细胞结构蛋白及胞内运输异常和光感受器突触及胞内电传导异常。
시추-시간영양불량（ CoRD ）시일류이황반구선출현광감수기세포위축조망적유전성안저질병，시추시간상계수손병차이시추세포수손위주。 CoRD부분진전형병례적시망막위축범위가수병정축점확대지시망막주변부。기유전방식포괄상염색체은성유전（ arCoRD），상염색체현성유전（ adCoRD），X-염색체련쇄유전（ CoRD 3）。수착기인검측기술적발전화보급，목전이경정위적돌변기인유21개。본문주요취각개기인소표체적단백공능귀류，탐토CoRD발병적가능궤제작일종술。 CoRD적생화분자궤제대치가분위이하5류：광전도통로、시망막대사、시망막조직적발육화유지、세포결구단백급포내운수이상화광감수기돌촉급포내전전도이상。
Cone-rod dystrophy ( CoRD) is a kind of inherited retinal disorders that are characterized by progressive apoptosis of photoreceptors beginning at macular region ( cones dominant) and then spreading to periphery ( rod dominant) . The pattern of inheritance includes autosomal recessive ( arCoRD) , autosomal dominant ( adCorD) , and X-linked ( CoRD 3).With the advance in gene sequencing technology, 21 mutant genes have been identified.Author will review the func-tions of these mutant genes and their roles in the pathogenesis of CoRD.Author will discuss this topic from 5 tightly associ-ated aspects:1) normal phototransduction pathways, 2) biochemistry of visual cycle, 3) development and maintenance of normal retinal, 4) abnormal cellular structural proteins and abnormal intracellular transport, and 5) abnormal synaptic and intracellular transduction.