目的:通过VMD2基因的分子遗传学检查确诊卵黄样黄斑营养不良家系,为Best病的基因诊断和遗传咨询提供依据。方法:对家系成员进行系统的眼科检查,同时采用聚合酶链反应(PCR)和DNA直接测序法对VMD2基因的编码区进行基因组测序和突变筛查,并在100例正常对照者中对VMD2基因突变的检测结果进行验证。结果:先证者双眼底均可见黄斑部卵黄样改变,但眼底荧光造影检查未见脉络膜新生血管。VMD2基因变异分析结果,在外显子8中检出第886位碱基的A>G错义突变(Asn296Asp)。结论:本家系中检出的VMD2基因的Asn296Asp变异是包括欧美各国在内没有报道过的新变异。VMD2基因突变筛查可用于Best病的诊断和遗传咨询。对待黄斑部有异常的病例,应充分考虑Best病的可能性,慎重地进行诊疗工作。

AIM:To definitively diagnose a Best vitelliform macular dystrophy(BVMD) pedigree by molecular genetic examination of vitelliform macular dystophy 2(VMD2) gene,and to provide the basis for gene diagnosis of Best disease·METHODS: Ophthalmological examinations were performed.Mutations in the coding regions of VMD2 gene was analyzed by polymerase chain reaction(PCR) and direct DNA sequencing.VMD2 mutation screening was performed in 100 normal controls·RESULTS: Funduscopic examination of the proband revealed vitelliform lesions in the maculae of both eyes.Fundus angiography didn’t show choroidal neovascularization.Mutation analyses found a heterozygous mutation c.886A>G(Asn296Asp) in exon 8 of VMD2 gene·CONCLUSION: A novel disease-causing mutation in VMD2 gene(Asn296Asp) is found in a Best disease family.Mutation screening of VMD2 gene can be used for definite diagnosis and genetic consultation of Best disease.The possibility of Best disease should not be neglected when a case has macular abnormality.

R774.5

国家自然科学基金资助项目(No.81000402)