CAJ | 학술논문

Leber先天性黑矇(LCA)是导致先天性盲的主要遗传性视网膜疾病,具有遗传异质性与临床表型多样性的特点.近年来其分子遗传学研究成为国内外热点,相继明确了20个与LCA相关的致病基因.多项研究表明LCA的基因型和临床表型之间存在关联,了解不同致病基因对应的临床表型特点有助于致病基因的筛查.就当前发现的LCA致病基因、可能的发病机制以及特定基因型与临床表型的关系进行综述,以期有助于临床诊断和咨询.
Leber선천성흑몽(LCA)시도치선천성맹적주요유전성시망막질병,구유유전이질성여림상표형다양성적특점.근년래기분자유전학연구성위국내외열점,상계명학료20개여LCA상관적치병기인.다항연구표명LCA적기인형화림상표형지간존재관련,료해불동치병기인대응적림상표형특점유조우치병기인적사사.취당전발현적LCA치병기인、가능적발병궤제이급특정기인형여림상표형적관계진행종술,이기유조우림상진단화자순.
Leber congenital amaurosis (LCA) is one of the main inherited retinal diseases causing congenital blindness.LCA is also characterized by genetic heterogeneity and variable clinical phenotypes.Recent years,a lot of molecular genetic studies related with its pathogenesis have been performed.So far,20 causative genes have been identified that account for LCA.Some correlations between genotype and clinical phenotype have also been found.Those specific clinical manifestations may help to identify the mutant gene that causes the LCA.This review summarized the causal genes,their roles in the pathogenesis of LCA,coupled with relationship between specific gene and Corresponding phenotype,which will assist the clinician in patient diagnosis and counseling.