CAJ | 학술논문

遗传性视网膜疾病是临床上常见且危害严重的眼科遗传性致盲疾病.我国拥有丰富的遗传性视网膜疾病人群资源,人类基因组计划的完成及相关遗传学技术的广泛应用为遗传性视网膜疾病基因研究提供了良好的平台.经过近年来的不断探索,我国对遗传性视网膜疾病的基因研究水平明显提高,部分成果已经接近国际先进水平,如常染色体显性遗传视网膜色素变性新基因的发现及功能研究,有的遗传性视网膜疾病正在从"不治之症"逐渐过渡到"可治之症"等.但就整体水平而言,不论是在遗传性视网膜疾病的基础研究还是临床研究方面与国外同类研究水平相比均存在着明显的差距.因此,我们应当抓住目前基因研究不断深入发展的机遇,集中全国眼科优势力量,创造和提供条件让更多的遗传性视网膜疾病患者尽早得到基因诊断,为早日在我国尝试进行多种遗传性视网膜疾病的基因治疗提供新的契机.
유전성시망막질병시림상상상견차위해엄중적안과유전성치맹질병.아국옹유봉부적유전성시망막질병인군자원,인류기인조계화적완성급상관유전학기술적엄범응용위유전성시망막질병기인연구제공료량호적평태.경과근년래적불단탐색,아국대유전성시망막질병적기인연구수평명현제고,부분성과이경접근국제선진수평,여상염색체현성유전시망막색소변성신기인적발현급공능연구,유적유전성시망막질병정재종"불치지증"축점과도도"가치지증"등.단취정체수평이언,불론시재유전성시망막질병적기출연구환시림상연구방면여국외동류연구수평상비균존재착명현적차거.인차,아문응당조주목전기인연구불단심입발전적궤우,집중전국안과우세역량,창조화제공조건양경다적유전성시망막질병환자진조득도기인진단,위조일재아국상시진행다충유전성시망막질병적기인치료제공신적계궤.
Hereditary retinal diseases (HRD) are a group of both common and severe ocular hereditary diseases.HRD are a major cause of blindness.Human genetic resources in China are plentiful.Through the accomplishment of the human genome project and the widespread application of related genetic techniques,the methods for detecting the mutant genes of HRD has been established,and important findings in the treatment of HRD through gene therapy studies have been obtained.In the past ten years,HRD studies in China have gained significant progress in this field,including several pioneer results in the detection of autosomal dominant retinitis pigmentosa mutant gene.However,significant difference still exists in basic and clinical studies of HRD between the western countries and China. At present,HRD are transforming from"the incurable disease"to"the curable disease".Advancements in gene therapy studies are making the treatment of HRD possible,we should take advantage of these technological innovations to hunch our own clinical trials using gene therapy in the treatment of HRD in Chinese patients as soon as possible.