molecular genetics analysis of pseudoexfoliation syndrome.

本研究涉及2例伴有假性剥脱综合征的晶格状角膜营养不良患者和10例未发病的家系成员。晶格型角膜营养不良是由TGFBI基因突变引起的。采用基因特异性引物直接测序的方法检测TGFBI基因突变。在4例患者中发现了L527R错义突变，但其中2例无晶格型角膜营养不良。提示L527R错义突变所致的晶格状角膜营养不良外显率可能为50%。L527R错义突变所致的晶格状角膜营养不良患者的表型和病情严重程度几乎相同，因此L527R错义突变所致的晶格状角膜营养不良患者的表型差异不一定存在。

This study was involved 2 affected of lattice corneal dystrophy with pseudoexfoliation syndrome and 10 unaffected family individuals. Lattice corneal dystrophy is caused by mutation of TGFBI gene. A mutation of TGFBI was detected by direct sequencing method using gene specific primer. A missense mutation L527R was revealed in 4 individuals, but 2 of that 4 individuals were without lattice corneal dystrophy. This result suggests that penetrance of lattice corneal dystrophy caused by L527R misssense mutation may be 50%. Phenotype and severity of disease in 2 affected members were almost equal, therefore difference of phenotype may not be variably observed if lattice corneal dystrophy caused by L527R missense mutation.