CAJ | 학술논문

角膜营养不良具有遗传性,表现为双眼角膜组织各层出现进行性的病理性沉着物,导致角膜混浊,视力下降甚至失明.以往的角膜营养不良分类方法是以受累角膜的分层为依据的,存在一定的不足.随着分子遗传学研究的进展,一些研究者提出以遗传学信息为依据对角膜营养不良进行分类,如国际角膜营养不良分类委员会(IC3D)提出了在临床、组织病理学特征分类基础上结合遗传学依据对角膜营养不良进行较为科学、合理的新分类方法.这种分类方法把疾病的临床、病理和遗传方面当作一个整体进行考虑.近几年来,本实验室通过对中国多个角膜营养不良家系的遗传学研究,主要对角膜营养不良的相关基因人转化生长因子-β诱导(TGFBI)基因进行分析,揭示了TGFBI基因不同的突变与临床表型之间的联系,从分子水平证实TGFBI基因角膜营养不良分类方法是科学、准确的.就角膜营养不良的临床和分子方面的研究进展进行总结,为各类角膜影响不良的鉴别诊断和治疗提供依据.
각막영양불량구유유전성,표현위쌍안각막조직각층출현진행성적병이성침착물,도치각막혼탁,시력하강심지실명.이왕적각막영양불량분류방법시이수루각막적분층위의거적,존재일정적불족.수착분자유전학연구적진전,일사연구자제출이유전학신식위의거대각막영양불량진행분류,여국제각막영양불량분류위원회(IC3D)제출료재림상、조직병이학특정분류기출상결합유전학의거대각막영양불량진행교위과학、합리적신분류방법.저충분류방법파질병적림상、병리화유전방면당작일개정체진행고필.근궤년래,본실험실통과대중국다개각막영양불량가계적유전학연구,주요대각막영양불량적상관기인인전화생장인자-β유도(TGFBI)기인진행분석,게시료TGFBI기인불동적돌변여림상표형지간적련계,종분자수평증실TGFBI기인각막영양불량분류방법시과학、준학적.취각막영양불량적림상화분자방면적연구진전진행총결,위각류각막영향불량적감별진단화치료제공의거.
Corneal dystrophy represents a group of inherited corneal diseases with progressive accumulation of deposits in different layers of cornea,resulting in loss of corneal transparency and visual impairment,or even blindness.Initial classification of corneal dystrophy was upon involved cornea layer,and it is insufficient for some multi-layer lesion.With the current progress in molecular genetics,researchers proposed a new classifying way based on genetic information of corneal dystrophy.A revised classification has been recommended by the International Committee for Classification of Corneal Dystrophies (IC3D).The clinical manifestation,histological and genetic basis of the disease are integrated in the classification system,so it is regarded as to be more scientific and reasonable.Recent years,our laboratory performed genetic screen on some Chinese pedigrees with corneal dystrophy,mainly focusing on the corneal dystrophy-associated genes such as human transforming growth factor beta induced (TGFBI) gene,which reveals the relationship of the different mutations on TGFBI gene with clinical phenotypes.Our studies further indicated that the corneal dystrophy classification method based on molecular level is a more scientific and practicable method.Some updated information on the clinical phenotypes and molecular aspects of corneal dystrophy were provided here aimed to offer the aid to the differential diagnosis and management of these diseases.