国际眼科杂志
國際眼科雜誌
국제안과잡지
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY
2015年
4期
621-624
,共4页
Best卵黄样黄斑营养不良%BEST1%bestrophin-1%临床表现%基因突变
Best卵黃樣黃斑營養不良%BEST1%bestrophin-1%臨床錶現%基因突變
Best란황양황반영양불량%BEST1%bestrophin-1%림상표현%기인돌변
best vitelliform macular dystrophy%BEST1%bestrophin-1%clinical feature%gene mutation
Best 卵黄样黄斑营养不良( Best vitelliform macular dystrophy,BVMD)是常染色体显性遗传疾病,绝大多数由BEST1基因突变引起。突变基因导致其编码的bestrophin-1蛋白功能异常,患者表现出以视力下降为主的临床症状。本文从BEST1基因结构及功能、基因突变特点、BVMD临床表现及其与BEST1突变的关系、可能的治疗手段等几个方面进行阐述,以期在此基础上对疾病及致病基因进行进一步研究。
Best 卵黃樣黃斑營養不良( Best vitelliform macular dystrophy,BVMD)是常染色體顯性遺傳疾病,絕大多數由BEST1基因突變引起。突變基因導緻其編碼的bestrophin-1蛋白功能異常,患者錶現齣以視力下降為主的臨床癥狀。本文從BEST1基因結構及功能、基因突變特點、BVMD臨床錶現及其與BEST1突變的關繫、可能的治療手段等幾箇方麵進行闡述,以期在此基礎上對疾病及緻病基因進行進一步研究。
Best 란황양황반영양불량( Best vitelliform macular dystrophy,BVMD)시상염색체현성유전질병,절대다수유BEST1기인돌변인기。돌변기인도치기편마적bestrophin-1단백공능이상,환자표현출이시력하강위주적림상증상。본문종BEST1기인결구급공능、기인돌변특점、BVMD림상표현급기여BEST1돌변적관계、가능적치료수단등궤개방면진행천술,이기재차기출상대질병급치병기인진행진일보연구。
Best vitelliform macular dystrophy ( BVMD ) is an autosomal dominant disease mostly caused by mutations in BEST1 gene. These mutations change the normal physiological functions of BEST1-encoded bestrophin-1 protein, and finally lead to a reduction of visual acuity. This review is composed of the following aspects: the structure and functions of BEST1 gene, the characteristics of the mutations, clinical features of BVMD, genotype-phenotype correlations as well as possible gene therapy. Our contribution serves for further research on BVMD and BEST1 gene.
