CAJ | 학술논문

目的探讨1个家族性显性玻璃膜疣家系的EFEMP1基因突变及其临床表型.方法通过眼底照相、眼底荧光造影、光学相干断层成像等检查,研究一个家族性显性玻璃膜疣家系的临床特点,并对该家系的患者及正常对照进行分子遗传学分析,应用聚合酶链反应扩增EFEMP1基因的所有编码外显子,并将PCR产物进行直接测序,将测序结果与野生型序列进行比对.同时,对家系中出现脉络膜新生血管及视网膜前出血的先证者行玻璃体腔注射抗血管内皮生长因子(anti-vascular endothelial growth factor,VEGF).结果该家系中的两例患者EFEMP1基因第10外显子发生了C＞T(R345W)杂合突变,而在该家系的健康个体及100名健康人对照中未发现相同的突变.玻璃体腔注射抗VEGF药物的患者术后随访,视力明显改善,眼底稳定.结论该家系中EFEMP1基因的R345W突变导致了家族性显性玻璃膜疣.玻璃体腔抗VEGF药物对于治疗该疾病并发的脉络膜新生血管有良好的效果.
목적 탐토1개가족성현성파리막우가계적EFEMP1기인돌변급기림상표형.방법 통과안저조상、안저형광조영、광학상간단층성상등검사,연구일개가족성현성파리막우가계적림상특점,병대해가계적환자급정상대조진행분자유전학분석,응용취합매련반응확증EFEMP1기인적소유편마외현자,병장PCR산물진행직접측서,장측서결과여야생형서렬진행비대.동시,대가계중출현맥락막신생혈관급시망막전출혈적선증자행파리체강주사항혈관내피생장인자(anti-vascular endothelial growth factor,VEGF).결과 해가계중적량례환자EFEMP1기인제10외현자발생료C＞T(R345W)잡합돌변,이재해가계적건강개체급100명건강인대조중미발현상동적돌변.파리체강주사항VEGF약물적환자술후수방,시력명현개선,안저은정.결론 해가계중EFEMP1기인적R345W돌변도치료가족성현성파리막우.파리체강항VEGF약물대우치료해질병병발적맥락막신생혈관유량호적효과.
Objective To analyze clinical features and mutations of EFEMP1 gene in a Chinese pedigree with familial dominant drusen.Method Clinical features of the pedigree were studied with fundus photography,fundus fluorescein angiography and optical coherence tomography.Molecular genetic analysis was performed on the patients and unaffected individuals from the family.All coding exons of the EFEMP1 gene were amplified by polymerase chain reaction (PCR) and sequenced.The results were compared with wild-type sequences from NCBI.The proband who had suffered from choroidal neovascularization and preretinal hemorrhage received an intravitreal injection of an anti-vascular endothelial growth factor (VEGF) preparation.Results A heterozygous mutation C＞T (R345W) was identified in exon 10 of the EFEMP1 gene in two affected individuals from the family.The same mutation was not detected in unaffected family members and 100 healthy individuals.Postoperative follow-up of the patient receiving intravitreal injection of anti-VEGF drug showed that visual acuity was improved and fundus appeared to be stable.Conclusion The R345W mutation in EFEMP1 is responsible for the dominant drusen in this family.Intravitreal injection of anti-VEGF drug is a promising treatment for the improvement in vision.